A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628308



Internal ID6668451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2256085..2258097hg38UCSC Ensembl
Innerchr12:2256085..2258097hg38UCSC Ensembl
Outerchr12:2256005..2258165hg38UCSC Ensembl
chr12:2365251..2367263hg19UCSC Ensembl
Innerchr12:2365251..2367263hg19UCSC Ensembl
Outerchr12:2365171..2367331hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg382013
hg192013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14337339, essv14337338, essv14337337, essv14337340, essv14337341
SamplesHG03567, NA19678, HG02814, NA19189, NA20774
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628308
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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