A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8958184



Internal ID13379745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69728828..69728861hg38UCSC Ensembl
Innerchr12:69728843..69728846hg38UCSC Ensembl
Outerchr12:69728810..69728879hg38UCSC Ensembl
chr12:70122608..70122641hg19UCSC Ensembl
Innerchr12:70122623..70122626hg19UCSC Ensembl
Outerchr12:70122590..70122659hg19UCSC Ensembl
chr12:68408875..68408908hg18UCSC Ensembl
Innerchr12:68408893..68408890hg18UCSC Ensembl
Outerchr12:68408857..68408926hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38282
hg19282
hg18282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3423810
Supporting Variants
SamplesNA12144
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8958184
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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