A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647630



Internal ID6687684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33619861..33622893hg38UCSC Ensembl
Innerchr22:33619861..33622893hg38UCSC Ensembl
Outerchr22:33619658..33623137hg38UCSC Ensembl
chr22:34015845..34018877hg19UCSC Ensembl
Innerchr22:34015845..34018877hg19UCSC Ensembl
Outerchr22:34015642..34019121hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg383033
hg193033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16408490, essv16408492, essv16408491
SamplesHG04146, HG03887, HG03854
Known GenesLARGE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647630
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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