A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6701997



Internal ID10116506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:115473228..115478617hg38UCSC Ensembl
Outerchr9:118235507..118240896hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg385390
hg195390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738970
Supporting Variants
SamplesSSM039
Known Genes
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)essv6701997
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