A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14339704



Internal ID3524232
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628347
Supporting Variants
SamplesHG03120
Known GenesPRMT8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14339704
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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