A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5165071



Internal ID7910120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:34227742..34232194hg38UCSC Ensembl
Outerchr20:32815548..32820000hg19UCSC Ensembl
Outerchr20:32279209..32283661hg18UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg384453
hg194453
hg184453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2641528
Supporting Variants
SamplesNA18507
Known Genes
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)essv5165071
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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