A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35076



Internal ID12644426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..22216247hg38UCSC Ensembl
Innerchr15:20186408..22504198hg19UCSC Ensembl
Innerchr15:18446422..20005562hg18UCSC Ensembl
Innerchr15:18446422..20005562hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382235093
hg192317791
hg181559141
hg171559141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e55
Supporting Variantsessv6979956, essv6979955
SamplesNA18863
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2
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)esv35076
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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