A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2501710



Internal ID8218583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:110067316..110068996hg38UCSC Ensembl
Outerchr9:112829596..112831276hg19UCSC Ensembl
Outerchr9:111869417..111871097hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg381681
hg191681
hg181681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5205694
SamplesNA18507
Known GenesAKAP2, PALM2-AKAP2
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)esv2501710
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