A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5268608



Internal ID8013657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:35238381..35244268hg38UCSC Ensembl
Outerchr15:35530582..35536469hg19UCSC Ensembl
Outerchr15:33317874..33323761hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg385888
hg195888
hg185888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2464651
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)essv5268608
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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