A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2713975



Internal ID9948259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:10764783..10764983hg38UCSC Ensembl
Outerchr16:10858640..10858840hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv330e201
Supporting Variantsessv6796506, essv6772558, essv6706629, essv6867763, essv6945495
SamplesSSM071, SSM065, SSM023, SSM089, SSM040
Known GenesNUBP1
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)esv2713975
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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