A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2495579



Internal ID8559137
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 StatusM
Merged Variants
Supporting Variantsessv5382173
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)esv2495579
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer