A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630811



Internal ID7017626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114194154..114200194hg38UCSC Ensembl
Innerchr12:114194154..114200194hg38UCSC Ensembl
Outerchr12:114193953..114200497hg38UCSC Ensembl
chr12:114631959..114637999hg19UCSC Ensembl
Innerchr12:114631959..114637999hg19UCSC Ensembl
Outerchr12:114631758..114638302hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg386041
hg196041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14607587, essv14607592, essv14607588, essv14607598, essv14607595, essv14607589, essv14607590, essv14607591, essv14607601, essv14607585, essv14607597, essv14607594, essv14607586, essv14607599, essv14607596, essv14607600, essv14607593, essv14607584
SamplesHG00231, HG01462, HG01624, HG00100, HG02688, HG01761, NA20812, HG02780, HG00739, HG01669, NA19788, HG00284, HG01762, NA19761, NA20815, NA12749, NA19661, HG01756
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630811
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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