A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16397752



Internal ID2997555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29061496..29065060hg38UCSC Ensembl
Innerchr22:29061496..29065060hg38UCSC Ensembl
Outerchr22:29061301..29065270hg38UCSC Ensembl
chr22:29457484..29461048hg19UCSC Ensembl
Innerchr22:29457484..29461048hg19UCSC Ensembl
Outerchr22:29457289..29461258hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg383565
hg193565
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647524
Supporting Variants
SamplesHG02646
Known GenesC22orf31
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16397752
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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