A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745860



Internal ID10326830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49111438..49112591hg38UCSC Ensembl
Outerchr12:49505221..49506374hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381154
hg191154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885098, essv6936149
SamplesSSM021, SSM095
Known Genes
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)esv2745860
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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