A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34911



Internal ID12644261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22264652hg38UCSC Ensembl
Innerchr15:20167089..22552603hg19UCSC Ensembl
Innerchr15:18427103..20053967hg18UCSC Ensembl
Innerchr15:18427103..20053967hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382302817
hg192385515
hg181626865
hg171626865
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e55
Supporting Variantsessv6980928, essv6985437, essv6980927
SamplesNA19145
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)esv34911
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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