A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2595682



Internal ID8312554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:48247007..48247824hg38UCSC Ensembl
Outerchr16:48280918..48281735hg19UCSC Ensembl
Outerchr16:46838419..46839236hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38407
hg19407
hg18407
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5334105
SamplesNA18507
Known GenesLONP2, MIR548AE2
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)esv2595682
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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