A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980981



Internal ID12982397
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751444
Supporting Variants
SamplesNA19161
Known GenesCHEK2P2, HERC2P3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980981
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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