A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5234240



Internal ID7979289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42634014..42635636hg38UCSC Ensembl
Outerchr22:43030020..43031642hg19UCSC Ensembl
Outerchr22:41359964..41361586hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381623
hg191623
hg181623
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2438931
Supporting Variants
SamplesNA18507
Known GenesCYB5R3
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)essv5234240
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