A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749903



Internal ID9984187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:77552259..77552317hg38UCSC Ensembl
Outerchr15:77844601..77844659hg19UCSC Ensembl
Cytoband15q24.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6857891
SamplesSSM087
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)esv2749903
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