A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647102



Internal ID7033844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43331502..43332636hg38UCSC Ensembl
Innerchr21:43331652..43332486hg38UCSC Ensembl
Outerchr21:43331352..43332786hg38UCSC Ensembl
chr21:44751382..44752516hg19UCSC Ensembl
Innerchr21:44751532..44752366hg19UCSC Ensembl
Outerchr21:44751232..44752666hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16326714, essv16326721, essv16326722, essv16326720, essv16326717, essv16326718, essv16326716, essv16326719, essv16326715
SamplesHG03965, HG03793, HG03986, HG03709, HG03756, HG03974, HG04118, HG03778, HG03867
Known GenesLINC00322
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647102
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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