A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751770



Internal ID12638636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:73837862..74716223hg38UCSC Ensembl
Innerchr17:71834001..72712362hg19UCSC Ensembl
Innerchr17:69345596..70223957hg18UCSC Ensembl
Innerchr17:69345596..70223957hg17UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38878362
hg19878362
hg18878362
hg17878362
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983349, essv6986405, essv6983346, essv6983347, essv6983348
SamplesBEC_641
Known GenesBTBD17, C17orf77, CD300A, CD300C, CD300E, CD300LB, CD300LD, CD300LF, DNAI2, GPR142, GPRC5C, KIF19, MGC16275, RAB37, RPL38, TTYH2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751770
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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