A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6716369



Internal ID10128214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:135981502..135982281hg38UCSC Ensembl
Outerchr9:138873348..138874127hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38780
hg19780
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2739314
Supporting Variants
SamplesSSM043
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)essv6716369
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