A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646922



Internal ID6686978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34510514..34511811hg38UCSC Ensembl
Innerchr21:34510519..34511807hg38UCSC Ensembl
Outerchr21:34510510..34511816hg38UCSC Ensembl
chr21:35882812..35884109hg19UCSC Ensembl
Innerchr21:35882817..35884105hg19UCSC Ensembl
Outerchr21:35882808..35884114hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg381298
hg191298
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16313779, essv16313782, essv16313780, essv16313781
SamplesNA19834, NA19713, NA19025, NA18908
Known GenesKCNE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646922
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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