A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724984



Internal ID10308620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:17985575..17985975hg38UCSC Ensembl
Outerchr3:18027067..18027467hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38401
hg19401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917970, essv6789702, essv6766918, essv6947025, essv6825552, essv6679674
SamplesSSM024, SSM064, SSM017, SSM033, SSM080, SSM070
Known GenesLOC339862
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)esv2724984
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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