A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630081



Internal ID6670219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79579936..79583871hg38UCSC Ensembl
Innerchr12:79579964..79583844hg38UCSC Ensembl
Outerchr12:79579909..79583899hg38UCSC Ensembl
chr12:79973716..79977651hg19UCSC Ensembl
Innerchr12:79973744..79977624hg19UCSC Ensembl
Outerchr12:79973689..79977679hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg383936
hg193936
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14546414
SamplesHG02676
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630081
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