A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717818



Internal ID9952109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:150743357..150743956hg38UCSC Ensembl
Outerchr1:150715833..150716432hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733570
SamplesSSM049
Known GenesCTSS
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)esv2717818
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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