A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5162797



Internal ID7907846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:31688728..31689601hg38UCSC Ensembl
Outerchr20:30276531..30277404hg19UCSC Ensembl
Outerchr20:29740192..29741065hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38317
hg19317
hg18317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2444548
Supporting Variants
SamplesNA18507
Known GenesBCL2L1
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)essv5162797
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer