A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662892



Internal ID9928997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:74927263..74928105hg38UCSC Ensembl
Outerchr5:74927226..74928155hg38UCSC Ensembl
Innerchr5:74223088..74223930hg19UCSC Ensembl
Outerchr5:74223051..74223980hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38930
hg19930
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5649612, essv6426925
SamplesNA12383, NA11932
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662892
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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