A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714854



Internal ID9949139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:85620823..85620939hg38UCSC Ensembl
Outerchr16:85654429..85654545hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867894, essv6852126
SamplesSSM086, SSM089
Known GenesGSE1
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)esv2714854
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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