A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5333513



Internal ID8078562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:67105977..67106898hg38UCSC Ensembl
Outerchr17:65102093..65103014hg19UCSC Ensembl
Outerchr17:62532555..62533476hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38325
hg19325
hg18325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2558362
Supporting Variants
SamplesNA18507
Known GenesHELZ
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)essv5333513
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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