A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585602



Internal ID495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:206969124..206971387hg38UCSC Ensembl
Outerchr2:206964234..206971455hg38UCSC Ensembl
Innerchr2:207833848..207836111hg19UCSC Ensembl
Outerchr2:207828958..207836179hg19UCSC Ensembl
Innerchr2:207542093..207544356hg18UCSC Ensembl
Outerchr2:207537203..207544424hg18UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387222
hg197222
hg187222
Variant TypeCNV gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275226
Supporting Variants
Samples
Known GenesCPO
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585602
Frequency
Sample Size1250
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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