A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628244



Internal ID6668387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:480486..504015hg38UCSC Ensembl
chr12:589652..613181hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3823530
hg1923530
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14329786, essv14329785
SamplesHG02140, HG03836
Known GenesB4GALNT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628244
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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