A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751829



Internal ID12985381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:14219975..14276648hg38UCSC Ensembl
Innerchr2:14360099..14416772hg19UCSC Ensembl
Innerchr2:14277550..14334223hg18UCSC Ensembl
Innerchr2:14310697..14367370hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3856674
hg1956674
hg1856674
hg1756674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981718, essv6985652
SamplesBEC_328
Known GenesLINC00276
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751829
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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