A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2517279



Internal ID8580837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:58002959..58004753hg38UCSC Ensembl
Outerchr18:55670191..55671985hg19UCSC Ensembl
Outerchr18:53821189..53822983hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg381795
hg191795
hg181795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5279825
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)esv2517279
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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