A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646711



Internal ID7033454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:25549943..25554866hg38UCSC Ensembl
Innerchr21:25549949..25554861hg38UCSC Ensembl
Outerchr21:25549938..25554872hg38UCSC Ensembl
chr21:26922255..26927178hg19UCSC Ensembl
Innerchr21:26922261..26927173hg19UCSC Ensembl
Outerchr21:26922250..26927184hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg384924
hg194924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16296974, essv16296977, essv16296972, essv16296978, essv16296975, essv16296976, essv16296973
SamplesNA19397, HG03163, NA20783, NA19471, HG01272, HG02970, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646711
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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