A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6913214



Internal ID9674570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89160172..89160617hg38UCSC Ensembl
Outerchr16:89226580..89227025hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2715119
Supporting Variants
SamplesSSM015
Known GenesLINC00304
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)essv6913214
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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