A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674245



Internal ID9940350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56642538..56642735hg38UCSC Ensembl
Outerchr5:56642501..56642785hg38UCSC Ensembl
Innerchr5:55938365..55938562hg19UCSC Ensembl
Outerchr5:55938328..55938612hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6026735, essv6184016
SamplesNA19663, HG01101
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674245
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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