A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986599



Internal ID12635182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217334..22122310hg38UCSC Ensembl
Innerchr15:20422587..22410261hg19UCSC Ensembl
Innerchr15:18682601..19911625hg18UCSC Ensembl
Innerchr15:18682601..19911625hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381904977
hg191987675
hg181229025
hg171229025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34622
Supporting Variants
SamplesNA19012
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)essv6986599
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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