A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646226



Internal ID7032971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58713955..58715143hg38UCSC Ensembl
Innerchr20:58713964..58715135hg38UCSC Ensembl
Outerchr20:58713947..58715152hg38UCSC Ensembl
chr20:57289011..57290199hg19UCSC Ensembl
Innerchr20:57289020..57290191hg19UCSC Ensembl
Outerchr20:57289003..57290208hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg381189
hg191189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16218958
SamplesNA19332
Known GenesNPEPL1, STX16-NPEPL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646226
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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