A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34704



Internal ID12644054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131323539..131678860hg38UCSC Ensembl
Innerchr2:132081112..132436433hg19UCSC Ensembl
Innerchr2:131797582..132152903hg18UCSC Ensembl
Innerchr2:131914844..132270165hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38355322
hg19355322
hg18355322
hg17355322
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6978195, essv6978197, essv6990207, essv6986555, essv6978196
SamplesNA18976
Known GenesCCDC74A, LINC01087, LINC01120, LOC150776, LOC401010, MIR4784, MZT2A, POTEKP, RNU6-81P, TUBA3D, WTH3DI
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)esv34704
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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