A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714386



Internal ID10298022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:46383469..46383624hg38UCSC Ensembl
Outerchr16:46417381..46417536hg19UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv363e201
Supporting Variantsessv6928376, essv6732685, essv6665546, essv6796603, essv6688702, essv6867838, essv6949672, essv6815922, essv6703024, essv6966686, essv6678362, essv6835368, essv6945550, essv6960199, essv6721195
SamplesSSM071, SSM027, SSM024, SSM039, SSM023, SSM047, SSM029, SSM026, SSM089, SSM019, SSM035, SSM032, SSM044, SSM082, SSM077
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)esv2714386
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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