A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983019



Internal ID12628015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..20761858hg38UCSC Ensembl
Innerchr15:20167089..20967187hg19UCSC Ensembl
Innerchr15:18427103..19227219hg18UCSC Ensembl
Innerchr15:18427103..19227219hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38800023
hg19800099
hg18800117
hg17800117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751384
Supporting Variants
SamplesBEC_535
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983019
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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