A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34696



Internal ID12644046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20288172..22256018hg38UCSC Ensembl
Innerchr15:20493425..22543969hg19UCSC Ensembl
Innerchr15:18753439..20045333hg18UCSC Ensembl
Innerchr15:18753439..20045333hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381967847
hg192050545
hg181291895
hg171291895
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e55
Supporting Variantsessv6987065, essv6980371
SamplesNA07357
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
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34696
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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