A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2471268



Internal ID8534826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:99366401..99367962hg38UCSC Ensembl
Outerchr8:100378629..100380190hg19UCSC Ensembl
Outerchr8:100447805..100449366hg18UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381562
hg191562
hg181562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5319883
SamplesNA18507
Known GenesVPS13B
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)esv2471268
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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