A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585801



Internal ID6973321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40326022..40343179hg38UCSC Ensembl
chr1:40791694..40808851hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3817158
hg1917158
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9916643
SamplesHG04152
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585801
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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