A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6724055



Internal ID9788446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:86995356..86995574hg38UCSC Ensembl
Outerchr9:89610271..89610489hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738699
Supporting Variants
SamplesSSM045
Known GenesLOC100506834
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6724055
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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