A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5390516



Internal ID8482251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:62150230..62153298hg38UCSC Ensembl
Outerchr16:62184134..62187202hg19UCSC Ensembl
Outerchr16:60741635..60744703hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg383069
hg193069
hg183069
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2539910
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)essv5390516
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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