A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448008



Internal ID15294957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:38044366..38044366hg38UCSC Ensembl
Innerchr18:38044365..38044367hg38UCSC Ensembl
Outerchr18:38044316..38044416hg38UCSC Ensembl
chr18:35624330..35624330hg19UCSC Ensembl
Innerchr18:35624329..35624331hg19UCSC Ensembl
Outerchr18:35624280..35624380hg19UCSC Ensembl
chr18:33878328..33878328hg18UCSC Ensembl
Innerchr18:33878329..33878327hg18UCSC Ensembl
Outerchr18:33878278..33878378hg18UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38211
hg19211
hg18211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740892
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448008
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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