A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5271756



Internal ID8363491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:76347023..76348704hg38UCSC Ensembl
Outerchr14:76813366..76815047hg19UCSC Ensembl
Outerchr14:75883119..75884800hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381682
hg191682
hg181682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2485837
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)essv5271756
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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