A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv316e214



Internal ID22756210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132565800..132600135hg38UCSC Ensembl
chr12:133142386..133176721hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3834336
hg1934336
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3631301, esv3631303
SamplesNA19443, NA20291, NA19923, NA19036, HG03202, NA18499, NA19331, NA19334, NA18501, HG03432, HG03063, HG01516
Known GenesFBRSL1, MIR6763
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv316e214
Frequency
Sample Size2504
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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