A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275523



Internal ID1813592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:153844993..153845051hg19UCSC Ensembl
Outerchr5:153844791..153856475hg19UCSC Ensembl
Innerchr5:153825186..153825244hg18UCSC Ensembl
Outerchr5:153824984..153836668hg18UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv2585704
Samples
Known GenesHAND1
Method
AnalysisSV_analysis_a1
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee et al 2011
Pubmed ID21479260
Accession Number(s)esv275523
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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