A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979956



Internal ID12634340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20246097..22216247hg38UCSC Ensembl
Innerchr15:20451350..22504198hg19UCSC Ensembl
Innerchr15:18711364..20005562hg18UCSC Ensembl
Innerchr15:18711364..20005562hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381970151
hg192052849
hg181294199
hg171294199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35076
Supporting Variants
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
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979956
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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