A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714185



Internal ID10297821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:83590933..83591671hg38UCSC Ensembl
Outerchr1:84056616..84057354hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38739
hg19739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6906158, essv6847118, essv6699663, essv6785154, essv6729685, essv6929136, essv6829067
SamplesSSM039, SSM009, SSM047, SSM014, SSM086, SSM081, SSM020
Known Genes
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)esv2714185
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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