A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2585991



Internal ID8649549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:86129375..86131014hg38UCSC Ensembl
Outerchr8:87141604..87143243hg19UCSC Ensembl
Outerchr8:87210720..87212359hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381640
hg191640
hg181640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5224145
SamplesNA18507
Known GenesATP6V0D2
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)esv2585991
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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