A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274941



Internal ID347788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121597270..121600662hg38UCSC Ensembl
Outerchr5:121596472..121600833hg38UCSC Ensembl
Innerchr5:120932965..120936357hg19UCSC Ensembl
Outerchr5:120932167..120936528hg19UCSC Ensembl
Innerchr5:120960864..120964256hg18UCSC Ensembl
Outerchr5:120960066..120964427hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg384362
hg194362
hg184362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585891
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)esv274941
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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