A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988294



Internal ID12981131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:67045988..67089118hg38UCSC Ensembl
Innerchr2:67273120..67316250hg19UCSC Ensembl
Innerchr2:67126624..67169754hg18UCSC Ensembl
Innerchr2:67184771..67227901hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3843131
hg1943131
hg1843131
hg1743131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34381
Supporting Variants
SamplesNA18940
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988294
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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