A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606294



Internal ID6993230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112372376..112396912hg38UCSC Ensembl
chr5:111708073..111732609hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3824537
hg1924537
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12022710
SamplesHG03756
Known GenesEPB41L4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606294
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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