A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647117



Internal ID6687173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43906283..43914173hg38UCSC Ensembl
Innerchr21:43906303..43914154hg38UCSC Ensembl
Outerchr21:43906264..43914193hg38UCSC Ensembl
chr21:45326164..45334054hg19UCSC Ensembl
Innerchr21:45326184..45334035hg19UCSC Ensembl
Outerchr21:45326145..45334074hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg387891
hg197891
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16329047, essv16329048
SamplesHG02236, NA12272
Known GenesAGPAT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647117
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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