A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629833



Internal ID7016654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67477686..67508411hg38UCSC Ensembl
chr12:67871466..67902191hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3830726
hg1930726
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14519709
SamplesHG03520
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629833
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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