A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585274



Internal ID346853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:160557135..160560198hg38UCSC Ensembl
Outerchr2:160556064..160560269hg38UCSC Ensembl
Innerchr2:161413646..161416709hg19UCSC Ensembl
Outerchr2:161412575..161416780hg19UCSC Ensembl
Innerchr2:161121892..161124955hg18UCSC Ensembl
Outerchr2:161120821..161125026hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg384206
hg194206
hg184206
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275032
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)essv2585274
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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