A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5322863



Internal ID8067912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:111402781..111408062hg38UCSC Ensembl
Outerchr9:114165061..114170342hg19UCSC Ensembl
Outerchr9:113204882..113210163hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg385282
hg195282
hg185282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2492334
Supporting Variants
SamplesNA18507
Known GenesKIAA0368
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)essv5322863
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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