A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8813757



Internal ID13293430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32159946..32159946hg38UCSC Ensembl
Innerchr12:32159945..32159947hg38UCSC Ensembl
Outerchr12:32159886..32159996hg38UCSC Ensembl
chr12:32312880..32312880hg19UCSC Ensembl
Innerchr12:32312879..32312881hg19UCSC Ensembl
Outerchr12:32312820..32312930hg19UCSC Ensembl
chr12:32204147..32204147hg18UCSC Ensembl
Innerchr12:32204148..32204146hg18UCSC Ensembl
Outerchr12:32204087..32204197hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3344422
Supporting Variants
SamplesNA12878
Known GenesBICD1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8813757
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