A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6722493



Internal ID9787039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11905916..11908289hg38UCSC Ensembl
Outerchr3:11947390..11949763hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg382374
hg192374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2724892, esv2724924
Supporting Variants
SamplesSSM045
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)essv6722493
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