A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34526



Internal ID12643877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22300085hg38UCSC Ensembl
Innerchr15:20167089..22588036hg19UCSC Ensembl
Innerchr15:18427103..20089400hg18UCSC Ensembl
Innerchr15:18427103..20089400hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382338250
hg192420948
hg181662298
hg171662298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e55
Supporting Variantsessv6979887, essv6979888, essv6979886, essv6979885, essv6990421
SamplesNA18856
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
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)esv34526
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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