A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5215656



Internal ID7960705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:58694658..58695346hg38UCSC Ensembl
Outerchr20:57269714..57270402hg19UCSC Ensembl
Outerchr20:56703121..56703809hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38553
hg19553
hg18553
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2558295
Supporting Variants
SamplesNA18507
Known GenesNPEPL1, STX16-NPEPL1
MethodSequencing
AnalysisLarger insertions and deletions are found by looking at variation in mate pair distances in the 2x50 mate pair libraries. These data are included in separate files for each of three coverage values: 2.2x, 4.0x, 5.6x, and 8.4x
PlatformNot specified
CommentsoriginalFile=Yoruban_large_indels_8.4x.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5215656
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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