A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725991



Internal ID10309627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:141658917..141659338hg38UCSC Ensembl
Outerchr3:141377759..141378180hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6693469, essv6774024
SamplesSSM066, SSM037
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)esv2725991
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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