A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738968



Internal ID10322604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:115256774..115256911hg38UCSC Ensembl
Outerchr9:118019053..118019190hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6850512
SamplesSSM086
Known GenesDEC1
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)esv2738968
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