A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715890



Internal ID10299526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:37678150..37678673hg38UCSC Ensembl
Outerchr17:36038154..36038677hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6665817, essv6966912, essv6871842, essv6913306
SamplesSSM027, SSM011, SSM029, SSM015
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)esv2715890
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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