A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2583509



Internal ID8647067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:69160066..69160594hg38UCSC Ensembl
Outerchr8:70072301..70072829hg19UCSC Ensembl
Outerchr8:70234855..70235383hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38822
hg19822
hg18822
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5289020
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)esv2583509
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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