A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14337347



Internal ID4339163
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628311
Supporting Variants
SamplesHG03857
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14337347
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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