A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14337242



Internal ID4339058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2136256..2148805hg38UCSC Ensembl
Innerchr12:2136256..2148805hg38UCSC Ensembl
Outerchr12:2135756..2149305hg38UCSC Ensembl
chr12:2245422..2257971hg19UCSC Ensembl
Innerchr12:2245422..2257971hg19UCSC Ensembl
Outerchr12:2244922..2258471hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3812550
hg1912550
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628306
Supporting Variants
SamplesHG01528
Known GenesCACNA1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14337242
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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