A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2462339



Internal ID8525897
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 StatusM
Merged Variants
Supporting Variantsessv5245104
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)esv2462339
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer