A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2555359



Internal ID8618917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:108717672..108719087hg38UCSC Ensembl
Outerchr8:109729901..109731316hg19UCSC Ensembl
Outerchr8:109799077..109800492hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381416
hg191416
hg181416
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5368942
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)esv2555359
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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