A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662008



Internal ID9581427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4974097..4976215hg38UCSC Ensembl
Outerchr19:4974060..4976265hg38UCSC Ensembl
Innerchr19:4974108..4976226hg19UCSC Ensembl
Outerchr19:4974071..4976276hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382206
hg192206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv616e199
Supporting Variantsessv5780431, essv6371931, essv5536503, essv5627607, essv6337672, essv5917437, essv6346543, essv5676905
SamplesNA18565, NA18944, NA18940, NA18550, HG00590, NA18605, NA18613, NA18564
Known GenesKDM4B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662008
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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