A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585363



Internal ID6972887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17267734..17296724hg38UCSC Ensembl
chr1:17594229..17623219hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3828991
hg1928991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9874823, essv9874826, essv9874825, essv9874822, essv9874820, essv9874824, essv9874821, essv9874819
SamplesNA20853, NA20894, HG02690, HG03947, HG03649, NA20521, HG03775, HG00136
Known GenesPADI3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585363
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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