A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745935



Internal ID10326905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58451941..58452182hg38UCSC Ensembl
Outerchr12:58845724..58845965hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6831332, essv6673184, essv6681603, essv6744048
SamplesSSM031, SSM033, SSM081, SSM053
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)esv2745935
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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