A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5381495



Internal ID8473230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:115582359..115583819hg38UCSC Ensembl
Outerchr8:116594586..116596046hg19UCSC Ensembl
Outerchr8:116663761..116665221hg18UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg381461
hg191461
hg181461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2510901
Supporting Variants
SamplesNA18507
Known GenesTRPS1
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)essv5381495
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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