A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584998



Internal ID6972523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1458481..1492003hg38UCSC Ensembl
chr1:1393861..1427383hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3833523
hg1933523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9840785, essv9840776, essv9840768, essv9840773, essv9840770, essv9840775, essv9840782, essv9840767, essv9840778, essv9840781, essv9840780, essv9840784, essv9840786, essv9840783, essv9840779, essv9840769, essv9840766, essv9840774, essv9840772, essv9840771, essv9840777
SamplesHG03111, HG01815, HG02382, HG03235, HG03640, HG02521, NA18574, HG02786, NA19383, HG01757, HG02389, HG02178, HG02180, HG00982, NA19403, HG02165, NA19776, HG02141, NA18632, HG00620, HG02079
Known GenesATAD3B, ATAD3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3584998
Frequency
Sample Size2504
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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