A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5222936



Internal ID8314671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:70314099..70315700hg38UCSC Ensembl
Outerchr9:72929015..72930616hg19UCSC Ensembl
Outerchr9:72118835..72120436hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg381602
hg191602
hg181602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2484591
Supporting Variants
SamplesNA18507
Known GenesSMC5
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)essv5222936
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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