A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2453404



Internal ID8170276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:13200009..13203315hg38UCSC Ensembl
Outerchr16:13293866..13297172hg19UCSC Ensembl
Outerchr16:13201367..13204673hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg383307
hg193307
hg183307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5254475
SamplesNA18507
Known GenesSHISA9
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)esv2453404
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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