A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14567201



Internal ID1145782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90272591..90276146hg38UCSC Ensembl
Innerchr12:90272591..90276146hg38UCSC Ensembl
Outerchr12:90272246..90276506hg38UCSC Ensembl
chr12:90666368..90669923hg19UCSC Ensembl
Innerchr12:90666368..90669923hg19UCSC Ensembl
Outerchr12:90666023..90670283hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg383556
hg193556
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630332
Supporting Variants
SamplesHG00978
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14567201
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