A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5216545



Internal ID8308280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:46758133..46759589hg38UCSC Ensembl
Outerchr18:44338096..44339552hg19UCSC Ensembl
Outerchr18:42592094..42593550hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381457
hg191457
hg181457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2647235
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)essv5216545
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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