A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14336190



Internal ID4338006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1872867..1876760hg38UCSC Ensembl
Innerchr12:1872883..1876744hg38UCSC Ensembl
Outerchr12:1872851..1876776hg38UCSC Ensembl
chr12:1982033..1985926hg19UCSC Ensembl
Innerchr12:1982049..1985910hg19UCSC Ensembl
Outerchr12:1982017..1985942hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383894
hg193894
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628297
Supporting Variants
SamplesNA19393
Known GenesCACNA2D4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14336190
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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