A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987598



Internal ID12977067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:23989622..24212440hg38UCSC Ensembl
Innerchr15:24234769..24457587hg19UCSC Ensembl
Innerchr15:21785862..22008680hg18UCSC Ensembl
Innerchr15:21785862..22008680hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38222819
hg19222819
hg18222819
hg17222819
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751512
Supporting Variants
SamplesBEC_711
Known GenesPWRN2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987598
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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