A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275446



Internal ID348352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:75044502..75048640hg38UCSC Ensembl
Outerchr5:75043749..75049544hg38UCSC Ensembl
Innerchr5:74340327..74344465hg19UCSC Ensembl
Outerchr5:74339574..74345369hg19UCSC Ensembl
Innerchr5:74376083..74380221hg18UCSC Ensembl
Outerchr5:74375330..74381125hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg385796
hg195796
hg185796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585747
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)esv275446
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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