A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987743



Internal ID12978076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:83023418..83574818hg38UCSC Ensembl
Innerchr2:83250542..83801942hg19UCSC Ensembl
Innerchr2:83104053..83655453hg18UCSC Ensembl
Innerchr2:83162200..83713600hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38551401
hg19551401
hg18551401
hg17551401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34966
Supporting Variants
SamplesNA06985
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987743
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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