A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5245104



Internal ID8336839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:22452080..22452596hg38UCSC Ensembl
Outerchr18:20032043..20032559hg19UCSC Ensembl
Outerchr18:18286041..18286557hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38730
hg19730
hg18730
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2462339
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)essv5245104
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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