A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983390



Internal ID12629537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..20411418hg38UCSC Ensembl
Innerchr15:20167089..20616671hg19UCSC Ensembl
Innerchr15:18427103..18876685hg18UCSC Ensembl
Innerchr15:18427103..18876685hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38449583
hg19449583
hg18449583
hg17449583
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34735
Supporting Variants
SamplesBEC_647
Known GenesCHEK2P2, HERC2P3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983390
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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