A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2591216



Internal ID8654774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:66116006..66117112hg38UCSC Ensembl
Outerchr8:67028241..67029347hg19UCSC Ensembl
Outerchr8:67190795..67191901hg18UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38179
hg19179
hg18179
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5190013
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)esv2591216
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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