A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751969



Internal ID12638835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100593655..100760540hg38UCSC Ensembl
Innerchr3:100312499..100479384hg19UCSC Ensembl
Innerchr3:101795189..101962074hg18UCSC Ensembl
Innerchr3:101795189..101962074hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38166886
hg19166886
hg18166886
hg17166886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv182e55
Supporting Variantsessv6988378, essv6985520
SamplesBEC_374
Known GenesABI3BP, GPR128, TFG
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)esv2751969
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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