A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980509



Internal ID12635861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:150882978..151089978hg38UCSC Ensembl
Innerchr2:151739492..151946492hg19UCSC Ensembl
Innerchr2:151447738..151654738hg18UCSC Ensembl
Innerchr2:151565000..151772000hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38207001
hg19207001
hg18207001
hg17207001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34659
Supporting Variants
SamplesNA19203
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980509
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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