A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5295144



Internal ID8386879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:21177469..21178963hg38UCSC Ensembl
Outerchr6:21177700..21179194hg19UCSC Ensembl
Outerchr6:21285679..21287173hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg381495
hg191495
hg181495
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2532671
Supporting Variants
SamplesNA18507
Known GenesCDKAL1
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)essv5295144
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