A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34786



Internal ID12644136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:296852..850461hg38UCSC Ensembl
Innerchr2:296852..846164hg19UCSC Ensembl
Innerchr2:286852..836164hg18UCSC Ensembl
Innerchr2:286852..836164hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38553610
hg19549313
hg18549313
hg17549313
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979493, essv6979494, essv6979496, essv6979495
SamplesNA18563
Known GenesLINC01115, TMEM18
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)esv34786
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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