A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646895



Internal ID7033637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32791042..32792631hg38UCSC Ensembl
Innerchr21:32791054..32792620hg38UCSC Ensembl
Outerchr21:32791031..32792643hg38UCSC Ensembl
chr21:34163353..34164942hg19UCSC Ensembl
Innerchr21:34163365..34164931hg19UCSC Ensembl
Outerchr21:34163342..34164954hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg381590
hg191590
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16313544
SamplesNA12775
Known GenesC21orf49, C21orf62
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646895
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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