A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747012



Internal ID9981296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132556776..132556989hg38UCSC Ensembl
Outerchr12:133133362..133133575hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6920319, essv6728435, essv6779563
SamplesSSM046, SSM017, SSM067
Known GenesFBRSL1
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)esv2747012
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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