A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2456414



Internal ID1486954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:81684195..81685652hg38UCSC Ensembl
Outerchr9:84299110..84300567hg19UCSC Ensembl
Outerchr9:83488930..83490387hg18UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg381458
hg191458
hg181458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5169708
SamplesNA18507
Known GenesTLE1
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)esv2456414
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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