A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714118



Internal ID10297754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:83019242..83019432hg38UCSC Ensembl
Outerchr1:83484925..83485115hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669053, essv6821253, essv6789218, essv6776990
SamplesSSM079, SSM031, SSM067, SSM070
Known Genes
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)esv2714118
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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