A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749032



Internal ID9983316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:93357802..93358160hg38UCSC Ensembl
Outerchr14:93824148..93824506hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38359
hg19359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6744240, essv6920523
SamplesSSM017, SSM053
Known GenesUNC79
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)esv2749032
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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