A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16397725



Internal ID730794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28696490..28702052hg38UCSC Ensembl
Innerchr22:28696490..28702052hg38UCSC Ensembl
Outerchr22:28696325..28702170hg38UCSC Ensembl
chr22:29092478..29098040hg19UCSC Ensembl
Innerchr22:29092478..29098040hg19UCSC Ensembl
Outerchr22:29092313..29098158hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg385563
hg195563
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647516
Supporting Variants
SamplesHG00343
Known GenesCHEK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16397725
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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