A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2629527



Internal ID8693085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:115510851..115511964hg38UCSC Ensembl
Outerchr5:114846548..114847661hg19UCSC Ensembl
Outerchr5:114874447..114875560hg18UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38148
hg19148
hg18148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5389352
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)esv2629527
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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