A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628241



Internal ID6668384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:468207..485357hg38UCSC Ensembl
chr12:577373..594523hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3817151
hg1917151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14329781, essv14329782
SamplesHG03836, HG02140
Known GenesB4GALNT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628241
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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