A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5166161



Internal ID7911210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:62117199..62118132hg38UCSC Ensembl
Outerchr4:62982917..62983850hg19UCSC Ensembl
Outerchr4:62665512..62666445hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38333
hg19333
hg18333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2611251
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)essv5166161
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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