A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628307



Internal ID6668450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2222359..2223185hg38UCSC Ensembl
Innerchr12:2222409..2223135hg38UCSC Ensembl
Outerchr12:2222285..2223259hg38UCSC Ensembl
chr12:2331525..2332351hg19UCSC Ensembl
Innerchr12:2331575..2332301hg19UCSC Ensembl
Outerchr12:2331451..2332425hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38827
hg19827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14337333, essv14337334, essv14337335, essv14337336
SamplesNA19913, NA19904, HG03066, HG03470
Known GenesCACNA1C, CACNA1C-AS4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628307
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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