A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628446



Internal ID7015270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7850660..7872389hg38UCSC Ensembl
chr12:8003256..8024985hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3821730
hg1921730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14349830, essv14349833, essv14349826, essv14349842, essv14349836, essv14349838, essv14349831, essv14349827, essv14349839, essv14349829, essv14349840, essv14349841, essv14349828, essv14349835, essv14349843, essv14349832, essv14349834, essv14349837
SamplesHG03812, HG01359, HG01970, HG01070, HG03754, HG04144, HG00736, HG01046, NA19901, HG03750, NA18648, HG00260, HG00533, NA06989, HG02807, HG01362, HG01862, HG02373
Known GenesSLC2A14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628446
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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