A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2429793



Internal ID8493351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:62016954..62018502hg38UCSC Ensembl
Outerchr8:62929513..62931061hg19UCSC Ensembl
Outerchr8:63092067..63093615hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg381549
hg191549
hg181549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5366011
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)esv2429793
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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