A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275170



Internal ID348076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:214850983..214851445hg38UCSC Ensembl
Outerchr2:214846895..214851496hg38UCSC Ensembl
Innerchr2:215715707..215716169hg19UCSC Ensembl
Outerchr2:215711619..215716220hg19UCSC Ensembl
Innerchr2:215423952..215424414hg18UCSC Ensembl
Outerchr2:215419864..215424465hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg384602
hg194602
hg184602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585368
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)esv275170
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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