A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646842



Internal ID7033585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:30849249..30930214hg38UCSC Ensembl
Innerchr21:30849249..30930214hg38UCSC Ensembl
Outerchr21:30848749..30930714hg38UCSC Ensembl
chr21:32221568..32302533hg19UCSC Ensembl
Innerchr21:32221568..32302533hg19UCSC Ensembl
Outerchr21:32221068..32303033hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3880966
hg1980966
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16311603
SamplesHG01405
Known GenesKRTAP11-1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646842
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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