A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629276



Internal ID7016098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39787014..39792568hg38UCSC Ensembl
Innerchr12:39787014..39792568hg38UCSC Ensembl
Outerchr12:39786955..39792620hg38UCSC Ensembl
chr12:40180816..40186370hg19UCSC Ensembl
Innerchr12:40180816..40186370hg19UCSC Ensembl
Outerchr12:40180757..40186422hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg385555
hg195555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14450572, essv14450573
SamplesNA19384, HG02462
Known GenesSLC2A13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629276
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer