A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2607274



Internal ID8670832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:108247744..108248497hg38UCSC Ensembl
Outerchr9:111010024..111010777hg19UCSC Ensembl
Outerchr9:110049845..110050598hg18UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg38378
hg19378
hg18378
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5223939
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)esv2607274
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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