A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724972



Internal ID9959274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:232418345..232420440hg38UCSC Ensembl
Outerchr1:232554091..232556186hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382096
hg192096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864186
SamplesSSM089
Known GenesSIPA1L2
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)esv2724972
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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