A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34381



Internal ID12990420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:67045988..67089118hg38UCSC Ensembl
Innerchr2:67273120..67316250hg19UCSC Ensembl
Innerchr2:67126624..67169754hg18UCSC Ensembl
Innerchr2:67184771..67227901hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3843131
hg1943131
hg1843131
hg1743131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989139, essv6980023, essv6988294
SamplesNA18940
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)esv34381
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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