A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14624269



Internal ID4469620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125040237..125046498hg38UCSC Ensembl
Innerchr12:125040237..125046498hg38UCSC Ensembl
Outerchr12:125040045..125046802hg38UCSC Ensembl
chr12:125524783..125531044hg19UCSC Ensembl
Innerchr12:125524783..125531044hg19UCSC Ensembl
Outerchr12:125524591..125531348hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386262
hg196262
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631033
Supporting Variants
SamplesHG03973
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14624269
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