A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16166460



Internal ID3553917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25344503..25359121hg38UCSC Ensembl
chr20:25325139..25339757hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3814619
hg1914619
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645584
Supporting Variants
SamplesHG03135
Known GenesABHD12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16166460
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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