A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647516



Internal ID7034257
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16397725
SamplesHG00343
Known GenesCHEK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647516
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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