A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746484



Internal ID9980768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:121255183..121255401hg38UCSC Ensembl
Outerchr12:121692986..121693204hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6885133, essv6806441
SamplesSSM074, SSM095
Known GenesCAMKK2
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)esv2746484
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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