A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34703



Internal ID12990739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56045814..56155046hg38UCSC Ensembl
Innerchr2:56272949..56382181hg19UCSC Ensembl
Innerchr2:56126453..56235685hg18UCSC Ensembl
Innerchr2:56184600..56293832hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38109233
hg19109233
hg18109233
hg17109233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979499, essv6990372, essv6979497, essv6979498
SamplesNA18563
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)esv34703
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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