A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589193



Internal ID6972128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235350429..235362207hg38UCSC Ensembl
chr1:235513744..235525522hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3811779
hg1911779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10332344, essv10332343
SamplesHG02645, HG02666
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589193
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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