A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980294



Internal ID12631478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22153870hg38UCSC Ensembl
Innerchr15:20167089..22441821hg19UCSC Ensembl
Innerchr15:18427103..19943185hg18UCSC Ensembl
Innerchr15:18427103..19943185hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382192035
hg192274733
hg181516083
hg171516083
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35166
Supporting Variants
SamplesNA07022
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)essv6980294
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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