A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646886



Internal ID6686942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:32495031..32627708hg38UCSC Ensembl
Innerchr21:32495181..32627558hg38UCSC Ensembl
Outerchr21:32494881..32627858hg38UCSC Ensembl
chr21:33867341..34000018hg19UCSC Ensembl
Innerchr21:33867491..33999868hg19UCSC Ensembl
Outerchr21:33867191..34000168hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38132678
hg19132678
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16313459
SamplesHG03950
Known GenesC21orf59, EVA1C, TCP10L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646886
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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