A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14438194



Internal ID4440010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32299410..32303225hg38UCSC Ensembl
Innerchr12:32299410..32303225hg38UCSC Ensembl
Outerchr12:32299194..32303347hg38UCSC Ensembl
chr12:32452344..32456159hg19UCSC Ensembl
Innerchr12:32452344..32456159hg19UCSC Ensembl
Outerchr12:32452128..32456281hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383816
hg193816
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3629073
Supporting Variants
SamplesNA19445
Known GenesBICD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14438194
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