A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647002



Internal ID6687058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38434540..38436195hg38UCSC Ensembl
Innerchr21:38434549..38436187hg38UCSC Ensembl
Outerchr21:38434532..38436204hg38UCSC Ensembl
chr21:39806462..39808118hg19UCSC Ensembl
Innerchr21:39806471..39808110hg19UCSC Ensembl
Outerchr21:39806454..39808127hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg381656
hg191657
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16320705
SamplesHG02621
Known GenesERG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647002
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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