A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718729



Internal ID9953021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:159976776..159977144hg38UCSC Ensembl
Outerchr1:159946566..159946934hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6829119
SamplesSSM081
Known GenesLINC01133
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)esv2718729
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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