A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629458



Internal ID7016280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49408725..49415138hg38UCSC Ensembl
Innerchr12:49408725..49415138hg38UCSC Ensembl
Outerchr12:49408396..49415412hg38UCSC Ensembl
chr12:49802508..49808921hg19UCSC Ensembl
Innerchr12:49802508..49808921hg19UCSC Ensembl
Outerchr12:49802179..49809195hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg386414
hg196414
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14477389, essv14477383, essv14477391, essv14477381, essv14477382, essv14477387, essv14477392, essv14477390, essv14477386, essv14477393, essv14477388, essv14477385, essv14477384
SamplesNA20874, NA20861, HG03937, HG03814, HG02409, NA21106, NA21141, HG04152, NA21142, HG03934, NA19072, NA21126, HG03681
Known GenesSPATS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629458
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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