A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5228657



Internal ID7973706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:112230656..112232165hg38UCSC Ensembl
Outerchr9:114992936..114994445hg19UCSC Ensembl
Outerchr9:114032757..114034266hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg381510
hg191510
hg181510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2461102
Supporting Variants
SamplesNA18507
Known GenesMIR3134, PTBP3
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)essv5228657
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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