A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607793



Internal ID6994724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180764079..180791148hg38UCSC Ensembl
chr5:180191079..180218148hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3827070
hg1927070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12153144, essv12153145
SamplesNA20513, HG01709
Known GenesMGAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607793
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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