A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986910



Internal ID12633783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961833..22300085hg38UCSC Ensembl
Innerchr15:20167086..22588036hg19UCSC Ensembl
Innerchr15:18427100..20089400hg18UCSC Ensembl
Innerchr15:18427100..20089400hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382338253
hg192420951
hg181662301
hg171662301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34567
Supporting Variants
SamplesNA18582
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986910
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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