A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16397726



Internal ID2049348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28718305..28729302hg38UCSC Ensembl
chr22:29114293..29125290hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3810998
hg1910998
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647517
Supporting Variants
SamplesHG01872
Known GenesCHEK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16397726
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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