A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3357070



Internal ID14857333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37808986..37809005hg38UCSC Ensembl
Innerchr20:37808982..37809009hg38UCSC Ensembl
Outerchr20:37808963..37809028hg38UCSC Ensembl
chr20:36437388..36437407hg19UCSC Ensembl
Innerchr20:36437384..36437411hg19UCSC Ensembl
Outerchr20:36437365..36437430hg19UCSC Ensembl
chr20:35870802..35870821hg18UCSC Ensembl
Innerchr20:35870825..35870798hg18UCSC Ensembl
Outerchr20:35870779..35870844hg18UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9679014
SamplesNA12872
Known GenesCTNNBL1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3357070
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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