A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8955456



Internal ID14992646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:5085845..5085869hg38UCSC Ensembl
Innerchr12:5085846..5085866hg38UCSC Ensembl
Outerchr12:5085822..5085890hg38UCSC Ensembl
chr12:5195011..5195035hg19UCSC Ensembl
Innerchr12:5195012..5195032hg19UCSC Ensembl
Outerchr12:5194988..5195056hg19UCSC Ensembl
chr12:5065272..5065296hg18UCSC Ensembl
Innerchr12:5065293..5065273hg18UCSC Ensembl
Outerchr12:5065249..5065317hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38248
hg19248
hg18248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3395762
Supporting Variants
SamplesNA19210
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8955456
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