A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5234156



Internal ID8325891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136430956..136432876hg38UCSC Ensembl
Outerchr9:139325408..139327328hg19UCSC Ensembl
Outerchr9:138445229..138447149hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381921
hg191921
hg181921
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2426973
Supporting Variants
SamplesNA18507
Known GenesINPP5E
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)essv5234156
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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