A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980637



Internal ID12636063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22098172hg38UCSC Ensembl
Innerchr15:20167089..22386123hg19UCSC Ensembl
Innerchr15:18427103..19887487hg18UCSC Ensembl
Innerchr15:18427103..19887487hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382136337
hg192219035
hg181460385
hg171460385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34415
Supporting Variants
SamplesNA19239
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)essv6980637
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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