A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653181



Internal ID13709032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:48729645..48729645hg38UCSC Ensembl
Innerchr18:48729644..48729646hg38UCSC Ensembl
Outerchr18:48729595..48729695hg38UCSC Ensembl
chr18:46256016..46256016hg19UCSC Ensembl
Innerchr18:46256015..46256017hg19UCSC Ensembl
Outerchr18:46255966..46256066hg19UCSC Ensembl
chr18:44510014..44510014hg18UCSC Ensembl
Innerchr18:44510015..44510013hg18UCSC Ensembl
Outerchr18:44509964..44510064hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38533
hg19533
hg18533
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3340374
Supporting Variants
SamplesNA12891
Known GenesCTIF
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653181
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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