A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2618000



Internal ID8334872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:128507018..128508480hg38UCSC Ensembl
Outerchr9:131269297..131270759hg19UCSC Ensembl
Outerchr9:130309118..130310580hg18UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381463
hg191463
hg181463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5166734
SamplesNA18507
Known GenesGLE1
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)esv2618000
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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