A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16396636



Internal ID4278465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:26654029..26655571hg38UCSC Ensembl
Innerchr22:26654079..26655521hg38UCSC Ensembl
Outerchr22:26653979..26655621hg38UCSC Ensembl
chr22:27049993..27051535hg19UCSC Ensembl
Innerchr22:27050043..27051485hg19UCSC Ensembl
Outerchr22:27049943..27051585hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381543
hg191543
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647482
Supporting Variants
SamplesHG03844
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16396636
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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