A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275594



Internal ID348500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:205872378..205872492hg38UCSC Ensembl
Outerchr1:205872144..205875786hg38UCSC Ensembl
Innerchr1:205841506..205841620hg19UCSC Ensembl
Outerchr1:205841272..205844914hg19UCSC Ensembl
Innerchr1:204108129..204108243hg18UCSC Ensembl
Outerchr1:204107895..204111537hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383643
hg193643
hg183643
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585639, essv2585219
Samples
Known GenesLOC284581
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275594
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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