A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745879



Internal ID3293831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:51197120..51197173hg38UCSC Ensembl
Outerchr12:51590903..51590956hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6965799, essv6867186
SamplesSSM027, SSM089
Known GenesPOU6F1
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)esv2745879
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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