A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725530



Internal ID10309166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:76439085..76439597hg38UCSC Ensembl
Outerchr3:76488236..76488748hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38513
hg19513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6840536, essv6836717, essv6955759, essv6922345, essv6962489, essv6914459
SamplesSSM083, SSM027, SSM084, SSM018, SSM026, SSM016
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)esv2725530
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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