A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585880



Internal ID347459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:134802950..134803013hg38UCSC Ensembl
Outerchr2:134802380..134813232hg38UCSC Ensembl
Innerchr2:135560520..135560583hg19UCSC Ensembl
Outerchr2:135559950..135570802hg19UCSC Ensembl
Innerchr2:135276990..135277053hg18UCSC Ensembl
Outerchr2:135276420..135287272hg18UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3810853
hg1910853
hg1810853
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275016
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)essv2585880
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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