A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715078



Internal ID9949363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88974973..88975408hg38UCSC Ensembl
Outerchr16:89041381..89041816hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6709997, essv6971476
SamplesSSM041, SSM028
Known GenesCBFA2T3
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)esv2715078
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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