A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629282



Internal ID7016104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39907871..39922011hg38UCSC Ensembl
Innerchr12:39907871..39922011hg38UCSC Ensembl
Outerchr12:39907621..39922325hg38UCSC Ensembl
chr12:40301673..40315813hg19UCSC Ensembl
Innerchr12:40301673..40315813hg19UCSC Ensembl
Outerchr12:40301423..40316127hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3814141
hg1914141
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14450809, essv14450815, essv14450822, essv14450808, essv14450811, essv14450813, essv14450814, essv14450817, essv14450812, essv14450807, essv14450805, essv14450819, essv14450810, essv14450818, essv14450806, essv14450816, essv14450820, essv14450821
SamplesNA18502, HG03193, HG03091, NA19198, NA20317, NA19317, NA18867, HG03511, NA19114, NA19452, HG01107, NA19206, NA19435, HG02938, HG03351, NA18505, HG02808, HG03271
Known GenesSLC2A13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629282
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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