A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745297



Internal ID10326267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23409633..23411373hg38UCSC Ensembl
Outerchr1:23736126..23737866hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381741
hg191741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6789161, essv6718998, essv6950307, essv6733492, essv6710596, essv6874717, essv6764171, essv6744945, essv6871724
SamplesSSM042, SSM092, SSM007, SSM091, SSM055, SSM070, SSM004, SSM049, SSM063
Known GenesTCEA3
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)esv2745297
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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