A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16166458



Internal ID6168274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25284710..25318462hg38UCSC Ensembl
chr20:25265346..25299098hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3833753
hg1933753
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645583
Supporting Variants
SamplesHG03135
Known GenesABHD12, PYGB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16166458
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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