A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605208



Internal ID6992234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:61106588..61149341hg38UCSC Ensembl
chr5:60402415..60445168hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3842754
hg1942754
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11925255
SamplesHG00145
Known GenesNDUFAF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605208
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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