A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585283



Internal ID346862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:58449676..58450979hg38UCSC Ensembl
Outerchr12:58446533..58451003hg38UCSC Ensembl
Innerchr12:58843459..58844762hg19UCSC Ensembl
Outerchr12:58840316..58844786hg19UCSC Ensembl
Innerchr12:57129726..57131029hg18UCSC Ensembl
Outerchr12:57126583..57131053hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg384471
hg194471
hg184471
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275155
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585283
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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