A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628295



Internal ID6668438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1839407..1877266hg38UCSC Ensembl
chr12:1948573..1986432hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3837860
hg1937860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv243e214
Supporting Variantsessv14336188, essv14336187
SamplesNA20314, NA19435
Known GenesCACNA2D4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628295
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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