A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628311



Internal ID6668454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2533644..2534126hg38UCSC Ensembl
Innerchr12:2533696..2534076hg38UCSC Ensembl
Outerchr12:2533464..2534306hg38UCSC Ensembl
chr12:2642810..2643292hg19UCSC Ensembl
Innerchr12:2642862..2643242hg19UCSC Ensembl
Outerchr12:2642630..2643472hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38483
hg19483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14337350, essv14337348, essv14337347, essv14337344, essv14337346, essv14337351, essv14337349, essv14337345
SamplesHG03857, HG03836, HG03885, HG03829, HG03871, HG03643, HG03991, HG03898
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628311
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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