A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5184816



Internal ID8276551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:38652693..38653607hg38UCSC Ensembl
Outerchr20:37281336..37282250hg19UCSC Ensembl
Outerchr20:36714750..36715664hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38384
hg19384
hg18384
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2429393
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)essv5184816
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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