A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746018



Internal ID10326988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30359752..30360396hg38UCSC Ensembl
Outerchr1:30832599..30833243hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38645
hg19645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6898621, essv6895857
SamplesSSM100, SSM099
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)esv2746018
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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