A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745753



Internal ID3293705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:32876437..32876741hg38UCSC Ensembl
Outerchr12:33029371..33029675hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6882318, essv6677824
SamplesSSM032, SSM094
Known GenesPKP2
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)esv2745753
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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