Value histogram for hg38.coriellDelDup.description
 
valuecountgraph
TRANSLOCATED CHROMOSOME211************************************************************
CHROMOSOME DELETION146******************************************
18Q- SYNDROME45*************
CRI-DU-CHAT SYNDROME40***********
DERIVATIVE CHROMOSOME34**********
DUPLICATED CHROMOSOME29********
MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD25*******
TURNER SYNDROME22******
RING CHROMOSOME20******
ANEUPLOID CHROMOSOME NUMBER - TRISOMY19*****
WILLIAMS-BEUREN SYNDROME; WBS16*****
HOLOPROSENCEPHALY16*****
DICENTRIC CHROMOSOME15****
POTOCKI-SHAFFER SYNDROME15****
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC13****
PRADER-WILLI SYNDROME; PWS12***
SMITH-MAGENIS SYNDROME; SMS12***
AZOOSPERMIA FACTOR C10***
18P- SYNDROME8**
RETINOBLASTOMA, SPORADIC8**
WILMS TUMOR 1; WT18**
CHROMOSOME 1P36 DELETION SYNDROME7**
ISODICENTRIC CHROMOSOME6**
INVERTED DUPLICATION DELETION6**
RECOMBINANT CHROMOSOME6**
CHROMOSOME INSERTION5*
TRISOMY 215*
DIGEORGE SYNDROME; DGS5*
ANGELMAN SYNDROME; AS5*
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS5*
ALBINISM, OCULOCUTANEOUS, TYPE II; OCA24*
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 184*
XX MALE SYNDROME4*
INVERTED CHROMOSOME4*
ICHTHYOSIS, X-LINKED4*
BASAL CELL NEVUS SYNDROME; BCNS4*
WOLF-HIRSCHHORN SYNDROME; WHS3*
GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; GCPS3*
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 83*
XXY SYNDROME; KLINEFELTER SYNDROME3*
CUTIS LAXA3*
TETRALOGY OF FALLOT3*
TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2 (LANGER-GIEDION SYNDROME; LGS)3*
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 93*
MUSCULAR DYSTROPHY, BECKER TYPE; BMD3*
DELETED IN AZOOSPERMIA; DAZ3*
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED2*
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 132*
POTOCKI-LUPSKI SYNDROME; PTLS2*
ADENOSINE DEAMINASE DEFICIENCY WITH NO IMMUNODEFICIENCY2*
FUMARATE HYDRATASE; FH2*
ESTERASE D; ESD S-FORMYLGLUTATHIONE HYDROLASE, INCLUDED; FGH, INCLUDED2*
ENCEPHALOPATHY OF CHILDHOOD (LENNOX-GASTAUT SYNDROME)2*
BECKWITH-WIEDEMANN SYNDROME; BWS2*
TRIPLOID CHROMOSOME NUMBER2*
ISOCHROMOSOME2*
HYPERGLYCEROLEMIA2*
NIJMEGEN BREAKAGE SYNDROME2*
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A1 
SPHEROCYTOSIS, HEREDITARY; HS1 
PSEUDODICENTRIC CHROMOSOME1 
GILLES DE LA TOURETTE SYNDROME; GTS1 
XXXX SYNDROME1 
XXXY AND XXXXY SYNDROME1 
CHRONIC GRANULOMATOUS DISEASE (XK-RELATED; CGD) - 306400 OR 3148501 
MARKER CHROMOSOME1 
KALLMANN SYN; HYPOGONADOTROPIC HYPOGONADISM, ANOSMIA- 147950, 244200, 3087001 
PELIZAEUS-MERZBACHER DISEASE; PMD1 
TUBEROUS SCLEROSIS; TS1 
CORNELIA DE LANGE SYNDROME 1; CDLS11