A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978011



Internal ID12631791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961833..22098185hg38UCSC Ensembl
Innerchr15:20167086..22386136hg19UCSC Ensembl
Innerchr15:18427100..19887500hg18UCSC Ensembl
Innerchr15:18427100..19887500hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382136353
hg192219051
hg181460401
hg171460401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35090
Supporting Variants
SamplesNA10857
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N4, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978011
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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