A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714207



Internal ID10297843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:83806209..83806345hg38UCSC Ensembl
Outerchr1:84271892..84272028hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859266, essv6669054, essv6961663
SamplesSSM027, SSM088, SSM031
Known GenesMIR548AP
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)esv2714207
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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