A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6724560



Internal ID9788901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:111296727..111296870hg38UCSC Ensembl
Outerchr12:111734531..111734674hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746357, esv2746358
Supporting Variants
SamplesSSM045
Known GenesCUX2
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)essv6724560
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