A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980647



Internal ID12636081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961833..22144785hg38UCSC Ensembl
Innerchr15:20167086..22432736hg19UCSC Ensembl
Innerchr15:18427100..19934100hg18UCSC Ensembl
Innerchr15:18427100..19934100hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382182953
hg192265651
hg181507001
hg171507001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34197
Supporting Variants
SamplesNA19240
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
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980647
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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