A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647780



Internal ID7034519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:40657483..40666214hg38UCSC Ensembl
Innerchr22:40657983..40665714hg38UCSC Ensembl
Outerchr22:40656483..40667214hg38UCSC Ensembl
chr22:41053487..41062218hg19UCSC Ensembl
Innerchr22:41053987..41061718hg19UCSC Ensembl
Outerchr22:41052487..41063218hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg388732
hg198732
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16430037
SamplesHG04177
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647780
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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