A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714452



Internal ID9948736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:49506149..49506878hg38UCSC Ensembl
Outerchr16:49540060..49540789hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867855, essv6820317, essv6858058, essv6852073, essv6792428, essv6717356, essv6674072, essv6966692
SamplesSSM027, SSM087, SSM089, SSM031, SSM086, SSM078, SSM070, SSM043
Known GenesZNF423
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)esv2714452
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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