A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275006



Internal ID347912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:120121022..120121669hg38UCSC Ensembl
Outerchr3:120120915..120121866hg38UCSC Ensembl
Innerchr3:119839869..119840516hg19UCSC Ensembl
Outerchr3:119839762..119840713hg19UCSC Ensembl
Innerchr3:121322559..121323206hg18UCSC Ensembl
Outerchr3:121322452..121323403hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38952
hg19952
hg18952
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585339, essv2585953
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)esv275006
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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