A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746358



Internal ID9980642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:111296723..111296907hg38UCSC Ensembl
Outerchr12:111734527..111734711hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6904965, essv6862471, essv6695616, essv6691666, essv6866320, essv6772731, essv6724560
SamplesSSM036, SSM008, SSM045, SSM011, SSM013, SSM088, SSM037
Known GenesCUX2
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)esv2746358
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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