A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725052



Internal ID10308688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:232828775..232832911hg38UCSC Ensembl
Outerchr1:232964521..232968657hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg384137
hg194137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6769712
SamplesSSM065
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)esv2725052
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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