A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628347



Internal ID7015171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3550918..3594973hg38UCSC Ensembl
chr12:3660084..3704139hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3844056
hg1944056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv245e214
Supporting Variantsessv14339704, essv14339705
SamplesNA19664, HG03120
Known GenesPRMT8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628347
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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