A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748330



Internal ID9982614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:54620509..54620738hg38UCSC Ensembl
Outerchr1:55086182..55086411hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38230
hg19230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6699627
SamplesSSM039
Known GenesACOT11, FAM151A
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)esv2748330
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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