A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743986



Internal ID10324956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13247917..13382061hg38UCSC Ensembl
Outerchr1:13353537..13497497hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38134145
hg19143961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742136, essv6748309, essv6917421, essv6800932, essv6816577, essv6853233, essv6784554
SamplesSSM008, SSM087, SSM009, SSM002, SSM017, SSM078, SSM053
Known GenesPRAMEF13, PRAMEF15, PRAMEF16, PRAMEF18, PRAMEF19, PRAMEF23, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9
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)esv2743986
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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