A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5254407



Internal ID8346142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21484035..21487245hg38UCSC Ensembl
Outerchr14:21952194..21955404hg19UCSC Ensembl
Outerchr14:21022034..21025244hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg383211
hg193211
hg183211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2506236
Supporting Variants
SamplesNA18507
Known GenesTOX4
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)essv5254407
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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