A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746537



Internal ID9980821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124373706..124373881hg38UCSC Ensembl
Outerchr12:124858252..124858427hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6779535, essv6724572, essv6796110, essv6761046, essv6695629, essv6735259
SamplesSSM061, SSM071, SSM045, SSM067, SSM037, SSM049
Known GenesNCOR2
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)esv2746537
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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