A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5372779



Internal ID8464514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150977684..150978739hg38UCSC Ensembl
Outerchr5:150357246..150358301hg19UCSC Ensembl
Outerchr5:150337439..150338494hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38216
hg19216
hg18216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2498124
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)essv5372779
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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