A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5196080



Internal ID8287815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:28247331..28248854hg38UCSC Ensembl
Outerchr18:25827295..25828818hg19UCSC Ensembl
Outerchr18:24081293..24082816hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381524
hg191524
hg181524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2480689
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)essv5196080
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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