A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5362517



Internal ID8107566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:53468904..53470310hg38UCSC Ensembl
Outerchr20:52085443..52086849hg19UCSC Ensembl
Outerchr20:51518850..51520256hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381407
hg191407
hg181407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2557335
Supporting Variants
SamplesNA18507
Known GenesTSHZ2
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)essv5362517
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