A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14336189



Internal ID4338005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1841262..1875411hg38UCSC Ensembl
Innerchr12:1841262..1875411hg38UCSC Ensembl
Outerchr12:1840762..1875911hg38UCSC Ensembl
chr12:1950428..1984577hg19UCSC Ensembl
Innerchr12:1950428..1984577hg19UCSC Ensembl
Outerchr12:1949928..1985077hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3834150
hg1934150
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628296
Supporting Variants
SamplesNA20314
Known GenesCACNA2D4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14336189
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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