A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2445147



Internal ID8508705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:62580187..62582284hg38UCSC Ensembl
Outerchr18:60247420..60249517hg19UCSC Ensembl
Outerchr18:58398400..58400497hg18UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg382098
hg192098
hg182098
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5190480
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)esv2445147
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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