A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980276



Internal ID12631449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961833..22216285hg38UCSC Ensembl
Innerchr15:20167086..22504236hg19UCSC Ensembl
Innerchr15:18427100..20005600hg18UCSC Ensembl
Innerchr15:18427100..20005600hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382254453
hg192337151
hg181578501
hg171578501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34229
Supporting Variants
SamplesNA07000
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)essv6980276
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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