A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726474



Internal ID9960781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243261927..243262324hg38UCSC Ensembl
Outerchr1:243425229..243425626hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6761973, essv6769726
SamplesSSM065, SSM062
Known GenesSDCCAG8
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)esv2726474
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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