A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722062



Internal ID10305698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:207213804..207213998hg38UCSC Ensembl
Outerchr1:207387149..207387343hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6845231, essv6699771
SamplesSSM011, SSM039
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)esv2722062
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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