A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647542



Internal ID7034283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29583187..29590352hg38UCSC Ensembl
Innerchr22:29583687..29589852hg38UCSC Ensembl
Outerchr22:29582187..29591352hg38UCSC Ensembl
chr22:29979176..29986341hg19UCSC Ensembl
Innerchr22:29979676..29985841hg19UCSC Ensembl
Outerchr22:29978176..29987341hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg387166
hg197166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16401386
SamplesNA20530
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647542
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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