A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665738



Internal ID9931843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:58714048..58715096hg38UCSC Ensembl
Outerchr20:58713891..58715249hg38UCSC Ensembl
Innerchr20:57289104..57290152hg19UCSC Ensembl
Outerchr20:57288947..57290305hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg381359
hg191359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5970866
SamplesNA19332
Known GenesNPEPL1, STX16-NPEPL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665738
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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