A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14615540



Internal ID3543001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118286872..118303039hg38UCSC Ensembl
Innerchr12:118286898..118303014hg38UCSC Ensembl
Outerchr12:118286847..118303065hg38UCSC Ensembl
chr12:118724677..118740844hg19UCSC Ensembl
Innerchr12:118724703..118740819hg19UCSC Ensembl
Outerchr12:118724652..118740870hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3816168
hg1916168
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630886
Supporting Variants
SamplesHG03129
Known GenesTAOK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14615540
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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