A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701337



Internal ID13642860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:222947..222947hg38UCSC Ensembl
Innerchr18:222946..222948hg38UCSC Ensembl
Outerchr18:222897..222997hg38UCSC Ensembl
chr18:222947..222947hg19UCSC Ensembl
Innerchr18:222946..222948hg19UCSC Ensembl
Outerchr18:222897..222997hg19UCSC Ensembl
chr18:212947..212947hg18UCSC Ensembl
Innerchr18:212948..212946hg18UCSC Ensembl
Outerchr18:212897..212997hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3366076
Supporting Variants
SamplesNA12878
Known GenesTHOC1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701337
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer