A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3374183



Internal ID14874445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31423617..31423636hg38UCSC Ensembl
Innerchr18:31423613..31423640hg38UCSC Ensembl
Outerchr18:31423594..31423659hg38UCSC Ensembl
chr18:29003580..29003599hg19UCSC Ensembl
Innerchr18:29003576..29003603hg19UCSC Ensembl
Outerchr18:29003557..29003622hg19UCSC Ensembl
chr18:27257578..27257597hg18UCSC Ensembl
Innerchr18:27257601..27257574hg18UCSC Ensembl
Outerchr18:27257555..27257620hg18UCSC Ensembl
Cytoband18q12.1
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 Variantsessv9675803, essv9675814
SamplesNA11881, NA18970
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3374183
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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