A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14416711



Internal ID4418527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25952432..25953533hg38UCSC Ensembl
Innerchr12:25952489..25953476hg38UCSC Ensembl
Outerchr12:25952375..25953590hg38UCSC Ensembl
chr12:26105365..26106466hg19UCSC Ensembl
Innerchr12:26105422..26106409hg19UCSC Ensembl
Outerchr12:26105308..26106523hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg381102
hg191102
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628912
Supporting Variants
SamplesNA19982
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14416711
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