A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2556771



Internal ID8273643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:104035736..104036324hg38UCSC Ensembl
Outerchr10:105795494..105796082hg19UCSC Ensembl
Outerchr10:105785484..105786072hg18UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg38585
hg19585
hg18585
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5367369
SamplesNA18507
Known GenesCOL17A1
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)esv2556771
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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