A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16166447



Internal ID6168263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25104610..25364011hg38UCSC Ensembl
chr20:25085246..25344647hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38259402
hg19259402
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645575
Supporting Variants
SamplesNA19454
Known GenesABHD12, ENTPD6, LOC284798, PYGB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16166447
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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