A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743953



Internal ID9978237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12911185..13187357hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg19276173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7e201
Supporting Variantsessv6972335, essv6668943
SamplesSSM029, SSM031
Known GenesHNRNPCP5, 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)esv2743953
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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