A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6828301



Internal ID10228953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:81866408..81866720hg38UCSC Ensembl
Outerchr16:81900013..81900325hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2714794
Supporting Variants
SamplesSSM080
Known GenesPLCG2
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)essv6828301
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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