A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629414



Internal ID7016236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:47283229..47286046hg38UCSC Ensembl
Innerchr12:47283229..47286046hg38UCSC Ensembl
Outerchr12:47282953..47286271hg38UCSC Ensembl
chr12:47677012..47679829hg19UCSC Ensembl
Innerchr12:47677012..47679829hg19UCSC Ensembl
Outerchr12:47676736..47680054hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg382818
hg192818
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14474844, essv14474831, essv14474852, essv14474851, essv14474834, essv14474843, essv14474830, essv14474845, essv14474848, essv14474840, essv14474833, essv14474847, essv14474832, essv14474836, essv14474839, essv14474846, essv14474835, essv14474841, essv14474838, essv14474853, essv14474849, essv14474850, essv14474854, essv14474855, essv14474842, essv14474837
SamplesHG02944, HG03163, NA19399, HG03130, HG03193, NA20814, NA19315, HG03105, HG02922, NA19036, HG03225, HG03394, NA19451, NA19210, NA19437, NA19236, HG02144, HG02497, HG03136, HG03109, NA19206, NA19454, HG03419, NA19351, NA19153, HG03265
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629414
Frequency
Sample Size2504
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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