A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628747



Internal ID7015571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18950463..18998430hg38UCSC Ensembl
chr12:19103397..19151364hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3847968
hg1947968
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14401278
SamplesHG04156
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628747
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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