A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16313777



Internal ID6315593
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646921
Supporting Variants
SamplesHG03547
Known GenesKCNE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16313777
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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