A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607794



Internal ID6994725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180785700..180797650hg38UCSC Ensembl
chr5:180212700..180224650hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3811951
hg1911951
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12153146
SamplesHG01709
Known GenesMGAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607794
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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