A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720818



Internal ID9955114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:193161761..193162241hg38UCSC Ensembl
Outerchr1:193130891..193131371hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38481
hg19481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6736092
SamplesSSM050
Known GenesCDC73
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)esv2720818
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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