A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717948



Internal ID10301584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3529844..3530659hg38UCSC Ensembl
Outerchr19:3529842..3530657hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917071, essv6863550, essv6880193, essv6868357, essv6971877, essv6902187, essv6744688, essv6925314
SamplesSSM093, SSM088, SSM028, SSM018, SSM089, SSM016, SSM053, SSM012
Known GenesFZR1
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)esv2717948
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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