A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6679256



Internal ID9748942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119417460..119509670hg38UCSC Ensembl
Outerchr1:119960083..120052293hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3892211
hg1992211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716762
Supporting Variants
SamplesSSM033
Known GenesHSD3B1, HSD3B2
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)essv6679256
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