A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667402



Internal ID9933507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4616661..4621282hg38UCSC Ensembl
Outerchr19:4616504..4621435hg38UCSC Ensembl
Innerchr19:4616673..4621294hg19UCSC Ensembl
Outerchr19:4616516..4621447hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384932
hg194932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5818597, essv6457054, essv5799450, essv6127361
SamplesHG00699, HG00663, HG00537, NA18636
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667402
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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