A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743931



Internal ID9978215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12907433..13183251hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg19275819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7e201
Supporting Variantsessv6972335, essv6859183, essv6863952, essv6675195, essv6668943
SamplesSSM088, SSM029, SSM089, SSM032, SSM031
Known GenesHNRNPCL1, HNRNPCP5, LOC649330, PRAMEF10, PRAMEF2, PRAMEF22, PRAMEF23, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8
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)esv2743931
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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