A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746042



Internal ID10327012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30567795..30568801hg38UCSC Ensembl
Outerchr1:31040642..31041648hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg381007
hg191007
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6797465, essv6710605, essv6868726, essv6793308, essv6669365, essv6666912, essv6843905, essv6929071, essv6880430, essv6719043
SamplesSSM071, SSM042, SSM090, SSM094, SSM085, SSM072, SSM020, SSM007, SSM005, SSM030
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)esv2746042
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer