A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275335



Internal ID1555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193186370..193187206hg38UCSC Ensembl
Outerchr1:193186313..193190581hg38UCSC Ensembl
Innerchr1:193155500..193156336hg19UCSC Ensembl
Outerchr1:193155443..193159711hg19UCSC Ensembl
Innerchr1:191422123..191422959hg18UCSC Ensembl
Outerchr1:191422066..191426334hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg384269
hg194269
hg184269
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586068, essv2585653
Samples
Known GenesB3GALT2, CDC73
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275335
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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