A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5265804



Internal ID8357539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:96630288..96632176hg38UCSC Ensembl
Outerchr5:95965992..95967880hg19UCSC Ensembl
Outerchr5:95991748..95993636hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381889
hg191889
hg181889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2552626
Supporting Variants
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)essv5265804
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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