A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713990



Internal ID9948274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:12942902..12943535hg38UCSC Ensembl
Outerchr16:13036759..13037392hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg38634
hg19634
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6942929, essv6975228, essv6824102, essv6665463, essv6949579, essv6888363, essv6897993, essv6851981, essv6936666, essv6784059, essv6696073, essv6717278, essv6953765, essv6673947, essv6901766
SamplesSSM086, SSM099, SSM043, SSM031, SSM025, SSM024, SSM012, SSM029, SSM003, SSM021, SSM037, SSM096, SSM079, SSM068, SSM004
Known GenesSHISA9
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)esv2713990
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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