A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2468622



Internal ID8532180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:8963423..8964501hg38UCSC Ensembl
Outerchr18:8963421..8964499hg19UCSC Ensembl
Outerchr18:8953421..8954499hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38244
hg19244
hg18244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5184788
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)esv2468622
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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