A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647285



Internal ID6687340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20041968..20072324hg38UCSC Ensembl
Innerchr22:20041968..20072324hg38UCSC Ensembl
Outerchr22:20041468..20072824hg38UCSC Ensembl
chr22:20029491..20059847hg19UCSC Ensembl
Innerchr22:20029491..20059847hg19UCSC Ensembl
Outerchr22:20028991..20060347hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3830357
hg1930357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16370122, essv16370121
SamplesNA12718, HG00254
Known GenesTANGO2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647285
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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