A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16166456



Internal ID6168272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25284710..25318462hg38UCSC Ensembl
chr20:25265346..25299098hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3833753
hg1933753
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645582
Supporting Variants
SamplesHG00266
Known GenesABHD12, PYGB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16166456
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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