A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746503



Internal ID9980787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123297126..123297341hg38UCSC Ensembl
Outerchr12:123781673..123781888hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6779531, essv6681649, essv6815529, essv6916194, essv6698807
SamplesSSM038, SSM067, SSM033, SSM016, SSM077
Known GenesSBNO1
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)esv2746503
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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