A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5321131



Internal ID8066180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:99588476..99589318hg38UCSC Ensembl
Outerchr4:100509633..100510475hg19UCSC Ensembl
Outerchr4:100728656..100729498hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38398
hg19398
hg18398
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2488524
Supporting Variants
SamplesNA18507
Known GenesMTTP
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)essv5321131
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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