A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589585



Internal ID6976914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248926514..248938526hg38UCSC Ensembl
chr1:249220713..249232725hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3812013
hg1912013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10383027, essv10383028
SamplesHG01551, NA20868
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589585
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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