A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979499



Internal ID12980278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56084514..56155014hg38UCSC Ensembl
Innerchr2:56311649..56382149hg19UCSC Ensembl
Innerchr2:56165153..56235653hg18UCSC Ensembl
Innerchr2:56223300..56293800hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3870501
hg1970501
hg1870501
hg1770501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34703
Supporting Variants
SamplesNA18563
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979499
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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