A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16396640



Internal ID6398456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26713488..26715352hg38UCSC Ensembl
Innerchr22:26713488..26715352hg38UCSC Ensembl
Outerchr22:26713188..26715456hg38UCSC Ensembl
chr22:27109451..27111315hg19UCSC Ensembl
Innerchr22:27109451..27111315hg19UCSC Ensembl
Outerchr22:27109151..27111419hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381865
hg191865
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647483
Supporting Variants
SamplesHG00278
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16396640
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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