A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5262157



Internal ID8353892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:83026312..83027314hg38UCSC Ensembl
Outerchr17:80984188..80985190hg19UCSC Ensembl
Outerchr17:78577477..78578479hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38336
hg19336
hg18336
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2567730
Supporting Variants
SamplesNA18507
Known GenesB3GNTL1
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)essv5262157
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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