A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714088



Internal ID3264584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23377695..23377802hg38UCSC Ensembl
Outerchr16:23389016..23389123hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6870131
SamplesSSM011
Known GenesSCNN1B
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)esv2714088
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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