A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5382173



Internal ID8473908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:81130249..81131631hg38UCSC Ensembl
Outerchr14:81596593..81597975hg19UCSC Ensembl
Outerchr14:80666346..80667728hg18UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381383
hg191383
hg181383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2495579
Supporting Variants
SamplesNA18507
Known GenesTSHR
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)essv5382173
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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