A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442903



Internal ID15289856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105044592..105044602hg38UCSC Ensembl
Innerchr12:105044584..105044610hg38UCSC Ensembl
Outerchr12:105044571..105044620hg38UCSC Ensembl
chr12:105438370..105438380hg19UCSC Ensembl
Innerchr12:105438362..105438388hg19UCSC Ensembl
Outerchr12:105438349..105438398hg19UCSC Ensembl
chr12:103962500..103962510hg18UCSC Ensembl
Innerchr12:103962518..103962492hg18UCSC Ensembl
Outerchr12:103962479..103962528hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672225, essv8672228, essv8672229, essv8672230, essv8672226, essv8672227
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known GenesALDH1L2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442903
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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