A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745639



Internal ID9979923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:24007479..24007788hg38UCSC Ensembl
Outerchr12:24160413..24160722hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6746839, essv6812213
SamplesSSM055, SSM076
Known GenesSOX5
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)esv2745639
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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