A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16365232



Internal ID6367048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19270416..19298077hg38UCSC Ensembl
Innerchr22:19270916..19297577hg38UCSC Ensembl
Outerchr22:19269416..19299077hg38UCSC Ensembl
chr22:19257939..19285600hg19UCSC Ensembl
Innerchr22:19258439..19285100hg19UCSC Ensembl
Outerchr22:19256939..19286600hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3827662
hg1927662
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647269
Supporting Variants
SamplesNA18999
Known GenesCLTCL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16365232
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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