A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2489354



Internal ID8552912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40916152..40922684hg38UCSC Ensembl
Outerchr8:40773671..40780203hg19UCSC Ensembl
Outerchr8:40892828..40899360hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg386533
hg196533
hg186533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5256689
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)esv2489354
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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