A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308795



Internal ID14809058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55272666..55272667hg38UCSC Ensembl
Innerchr18:55272614..55272719hg38UCSC Ensembl
Outerchr18:55272613..55272720hg38UCSC Ensembl
chr18:52939897..52939898hg19UCSC Ensembl
Innerchr18:52939845..52939950hg19UCSC Ensembl
Outerchr18:52939844..52939951hg19UCSC Ensembl
chr18:51090895..51090896hg18UCSC Ensembl
Innerchr18:51090948..51090843hg18UCSC Ensembl
Outerchr18:51090842..51090949hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38195
hg19195
hg18195
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838856
SamplesNA19238
Known GenesTCF4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308795
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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