A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16166450



Internal ID6168266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:25121452..25367702hg38UCSC Ensembl
Innerchr20:25121602..25367552hg38UCSC Ensembl
Outerchr20:25121302..25367852hg38UCSC Ensembl
chr20:25102088..25348338hg19UCSC Ensembl
Innerchr20:25102238..25348188hg19UCSC Ensembl
Outerchr20:25101938..25348488hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38246251
hg19246251
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645577
Supporting Variants
SamplesNA19454
Known GenesABHD12, ENTPD6, LOC284798, PYGB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16166450
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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