A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2600042



Internal ID8663600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:107270473..107273706hg38UCSC Ensembl
Outerchr9:110032754..110035987hg19UCSC Ensembl
Outerchr9:109072575..109075808hg18UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg383234
hg193234
hg183234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5355172
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)esv2600042
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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