A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749832



Internal ID10330802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:69393398..69393636hg38UCSC Ensembl
Outerchr15:69685737..69685975hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673851, essv6681963
SamplesSSM031, SSM033
Known GenesPAQR5
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)esv2749832
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