A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647731



Internal ID7034471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38446693..38450871hg38UCSC Ensembl
Innerchr22:38446721..38450843hg38UCSC Ensembl
Outerchr22:38446665..38450899hg38UCSC Ensembl
chr22:38842698..38846877hg19UCSC Ensembl
Innerchr22:38842726..38846849hg19UCSC Ensembl
Outerchr22:38842670..38846905hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg384179
hg194180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16421435
SamplesHG02182
Known GenesKCNJ4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647731
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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