A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5247757



Internal ID8339492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:11143752..11144338hg38UCSC Ensembl
Outerchr5:11143864..11144450hg19UCSC Ensembl
Outerchr5:11196864..11197450hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38648
hg19648
hg18648
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2548561
Supporting Variants
SamplesNA18507
Known GenesCTNND2
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)essv5247757
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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