A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979686



Internal ID12633906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217334..22032106hg38UCSC Ensembl
Innerchr15:20422587..22320057hg19UCSC Ensembl
Innerchr15:18682601..19821421hg18UCSC Ensembl
Innerchr15:18682601..19821421hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381814773
hg191897471
hg181138821
hg171138821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34453
Supporting Variants
SamplesNA18605
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979686
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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