A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630921



Internal ID6671054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120306254..120307706hg38UCSC Ensembl
Innerchr12:120306304..120307656hg38UCSC Ensembl
Outerchr12:120306177..120307783hg38UCSC Ensembl
chr12:120744057..120745509hg19UCSC Ensembl
Innerchr12:120744107..120745459hg19UCSC Ensembl
Outerchr12:120743980..120745586hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381453
hg191453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14618501, essv14618500, essv14618499, essv14618497, essv14618498
SamplesNA20854, NA20847, NA21143, NA21100, NA20911
Known GenesSIRT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630921
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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