A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5365278



Internal ID8457013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:46169871..46171605hg38UCSC Ensembl
Outerchr18:43749837..43751571hg19UCSC Ensembl
Outerchr18:42003835..42005569hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381735
hg191735
hg181735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2537008
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)essv5365278
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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