A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714578



Internal ID10298214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:60047196..60064654hg38UCSC Ensembl
Outerchr16:60081100..60098558hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3817459
hg1917459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882758, essv6824197, essv6766086
SamplesSSM079, SSM094, SSM063
Known Genes
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)esv2714578
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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