A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747877



Internal ID10328847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:100126331..100131108hg38UCSC Ensembl
Outerchr13:100778585..100783362hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg384778
hg194778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6783758, essv6812363, essv6971038, essv6940707
SamplesSSM028, SSM003, SSM068, SSM076
Known GenesPCCA
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)esv2747877
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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