A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745507



Internal ID10326477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8804531..8812382hg38UCSC Ensembl
Outerchr12:8957127..8964978hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387852
hg197852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6916095, essv6899021, essv6681542, essv6771653, essv6920140
SamplesSSM008, SSM017, SSM033, SSM016, SSM012
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)esv2745507
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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