A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714011



Internal ID10297647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:14455623..14456739hg38UCSC Ensembl
Outerchr16:14549480..14550596hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381117
hg191117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6792340
SamplesSSM070
Known GenesPARN
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)esv2714011
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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