A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2516692



Internal ID8233564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:168725971..168726607hg38UCSC Ensembl
Outerchr5:168152976..168153612hg19UCSC Ensembl
Outerchr5:168085554..168086190hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38590
hg19590
hg18590
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5289633
SamplesNA18507
Known GenesSLIT3
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)esv2516692
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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