A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605581



Internal ID6645825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80643908..80656286hg38UCSC Ensembl
chr5:79939727..79952105hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3812379
hg1912379
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11955805
SamplesNA19682
Known GenesDHFR, MSH3, MTRNR2L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605581
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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