A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2512409



Internal ID8575968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:22999070..23000609hg38UCSC Ensembl
Outerchr9:22999069..23000608hg19UCSC Ensembl
Outerchr9:22989069..22990608hg18UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg381540
hg191540
hg181540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5187179
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)esv2512409
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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