A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717126



Internal ID9951415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:54326408..54330341hg38UCSC Ensembl
Outerchr18:51852778..51856711hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg383934
hg193934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6804085
SamplesSSM073
Known GenesSTARD6
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)esv2717126
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