A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16421210



Internal ID6075111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37946164..37948544hg38UCSC Ensembl
Innerchr22:37946190..37948518hg38UCSC Ensembl
Outerchr22:37946138..37948570hg38UCSC Ensembl
chr22:38342171..38344551hg19UCSC Ensembl
Innerchr22:38342197..38344525hg19UCSC Ensembl
Outerchr22:38342145..38344577hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382381
hg192381
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647722
Supporting Variants
SamplesNA19462
Known GenesC22orf23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16421210
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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