A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275008



Internal ID347914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53969358..53974543hg38UCSC Ensembl
Outerchr1:53968925..53982404hg38UCSC Ensembl
Innerchr1:54435031..54440216hg19UCSC Ensembl
Outerchr1:54434598..54448077hg19UCSC Ensembl
Innerchr1:54207619..54212804hg18UCSC Ensembl
Outerchr1:54207186..54220665hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3813480
hg1913480
hg1813480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585314
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)esv275008
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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