A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3439306



Internal ID14939573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55478822..55478841hg38UCSC Ensembl
Innerchr18:55478818..55478845hg38UCSC Ensembl
Outerchr18:55478799..55478864hg38UCSC Ensembl
chr18:53146053..53146072hg19UCSC Ensembl
Innerchr18:53146049..53146076hg19UCSC Ensembl
Outerchr18:53146030..53146095hg19UCSC Ensembl
chr18:51297051..51297070hg18UCSC Ensembl
Innerchr18:51297074..51297047hg18UCSC Ensembl
Outerchr18:51297028..51297093hg18UCSC Ensembl
Cytoband18q21.2
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 Variantsessv9676402, essv9676413
SamplesNA12234, NA12812
Known GenesTCF4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3439306
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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