A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14622672



Internal ID4624488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124297652..124299995hg38UCSC Ensembl
Innerchr12:124297652..124299995hg38UCSC Ensembl
Outerchr12:124297453..124300211hg38UCSC Ensembl
chr12:124782198..124784541hg19UCSC Ensembl
Innerchr12:124782198..124784541hg19UCSC Ensembl
Outerchr12:124781999..124784757hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382344
hg192344
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631013
Supporting Variants
SamplesHG01131
Known GenesFAM101A, ZNF664-FAM101A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14622672
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