A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2586064



Internal ID957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202329533..202334493hg38UCSC Ensembl
Outerchr2:202329451..202338235hg38UCSC Ensembl
Innerchr2:203194256..203199216hg19UCSC Ensembl
Outerchr2:203194174..203202958hg19UCSC Ensembl
Innerchr2:202902501..202907461hg18UCSC Ensembl
Outerchr2:202902419..202911203hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg388785
hg198785
hg188785
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275144
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)essv2586064
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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