A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2464330



Internal ID8527888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:107079021..107080139hg38UCSC Ensembl
Outerchr9:109841302..109842420hg19UCSC Ensembl
Outerchr9:108881123..108882241hg18UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg38200
hg19200
hg18200
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5169463
SamplesNA18507
Known GenesMIR548Q
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)esv2464330
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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