A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720851



Internal ID10304487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:193985718..193986278hg38UCSC Ensembl
Outerchr1:193954848..193955408hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38561
hg19561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6738944
SamplesSSM052
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)esv2720851
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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