A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2491325



Internal ID8208197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:75923207..75926651hg38UCSC Ensembl
Outerchr14:76389550..76392994hg19UCSC Ensembl
Outerchr14:75459303..75462747hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg383445
hg193445
hg183445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5358289
SamplesNA18507
Known GenesBCYRN1, TTLL5
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)esv2491325
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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