A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647720



Internal ID7034460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37839586..37847329hg38UCSC Ensembl
Innerchr22:37840086..37846829hg38UCSC Ensembl
Outerchr22:37838586..37848329hg38UCSC Ensembl
chr22:38235593..38243336hg19UCSC Ensembl
Innerchr22:38236093..38242836hg19UCSC Ensembl
Outerchr22:38234593..38244336hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg387744
hg197744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16421207
SamplesNA19360
Known GenesANKRD54, MIR658
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647720
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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