A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14339711



Internal ID3524262
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628349
Supporting Variants
SamplesHG03120
Known GenesPRMT8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14339711
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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