A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980639



Internal ID12636065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217334..22167553hg38UCSC Ensembl
Innerchr15:20422587..22455504hg19UCSC Ensembl
Innerchr15:18682601..19956868hg18UCSC Ensembl
Innerchr15:18682601..19956868hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381950220
hg192032918
hg181274268
hg171274268
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, OR4N3P, OR4N4, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980639
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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