A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444193



Internal ID14944460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1870925..1871823hg38UCSC Ensembl
Innerchr12:1870924..1871824hg38UCSC Ensembl
Outerchr12:1869925..1872823hg38UCSC Ensembl
chr12:1980091..1980989hg19UCSC Ensembl
Innerchr12:1980090..1980990hg19UCSC Ensembl
Outerchr12:1979091..1981989hg19UCSC Ensembl
chr12:1850352..1851250hg18UCSC Ensembl
Innerchr12:1851251..1850351hg18UCSC Ensembl
Outerchr12:1849352..1852250hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688660
SamplesNA19239
Known GenesCACNA2D4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444193
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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