A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628349



Internal ID7015173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3551323..3588481hg38UCSC Ensembl
chr12:3660489..3697647hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3837159
hg1937159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv245e214
Supporting Variantsessv14339711
SamplesHG03120
Known GenesPRMT8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628349
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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