A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752005



Internal ID12985557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4047125..4141990hg38UCSC Ensembl
Innerchr3:4088809..4183674hg19UCSC Ensembl
Innerchr3:4063809..4158674hg18UCSC Ensembl
Innerchr3:4063809..4158674hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3894866
hg1994866
hg1894866
hg1794866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981083, essv6981082, essv6981081, essv6987908
SamplesBEC_350
Known Genes
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)esv2752005
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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