A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv245e214



Internal ID22756139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3550918..3597740hg38UCSC Ensembl
chr12:3660084..3706906hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3846823
hg1946823
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3628349, esv3628347, esv3628348
SamplesNA19664, NA20759, HG03120, HG02322, HG00623, HG01357
Known GenesPRMT8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv245e214
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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