A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714831



Internal ID10298467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:84479313..84479517hg38UCSC Ensembl
Outerchr16:84512919..84513123hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6888478, essv6966743, essv6858102, essv6699147, essv6776261, essv6891764
SamplesSSM027, SSM087, SSM038, SSM097, SSM096, SSM066
Known GenesTLDC1
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)esv2714831
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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