A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647118



Internal ID6687174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44138728..44139807hg38UCSC Ensembl
Innerchr21:44138738..44139798hg38UCSC Ensembl
Outerchr21:44138719..44139817hg38UCSC Ensembl
chr21:45558610..45559689hg19UCSC Ensembl
Innerchr21:45558620..45559680hg19UCSC Ensembl
Outerchr21:45558601..45559699hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381080
hg191080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16329051, essv16329049, essv16329050
SamplesHG01800, NA18603, HG01870
Known GenesC21orf33
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647118
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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