A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5263614



Internal ID8008663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:58119490..58120503hg38UCSC Ensembl
Outerchr16:58153394..58154407hg19UCSC Ensembl
Outerchr16:56710895..56711908hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38209
hg19209
hg18209
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2618354
Supporting Variants
SamplesNA18507
Known GenesC16orf80
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)essv5263614
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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