A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646921



Internal ID6686977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34368440..34369404hg38UCSC Ensembl
Innerchr21:34368487..34369357hg38UCSC Ensembl
Outerchr21:34368393..34369451hg38UCSC Ensembl
chr21:35740739..35741703hg19UCSC Ensembl
Innerchr21:35740786..35741656hg19UCSC Ensembl
Outerchr21:35740692..35741750hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38965
hg19965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16313775, essv16313771, essv16313776, essv16313778, essv16313777, essv16313772, essv16313774, essv16313773
SamplesHG03135, HG01956, NA20412, HG03024, HG03547, HG03428, HG02339, HG03460
Known GenesKCNE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646921
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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