A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3378493



Internal ID14878763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55608369..55608390hg38UCSC Ensembl
Innerchr18:55608371..55608388hg38UCSC Ensembl
Outerchr18:55608367..55608392hg38UCSC Ensembl
chr18:53275600..53275621hg19UCSC Ensembl
Innerchr18:53275602..53275619hg19UCSC Ensembl
Outerchr18:53275598..53275623hg19UCSC Ensembl
chr18:51426598..51426619hg18UCSC Ensembl
Innerchr18:51426600..51426617hg18UCSC Ensembl
Outerchr18:51426596..51426621hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866037
SamplesNA12005
Known GenesTCF4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3378493
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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