A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv294e214



Internal ID22756188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93920169..93969642hg38UCSC Ensembl
chr12:94313945..94363418hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3849474
hg1949474
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3630408, esv3630410
SamplesHG00626, HG00403, HG03836, HG03943, HG00610, HG03986, NA19917, HG03691, HG03709, HG00266, HG03934, HG00611, HG00623, HG01357, NA20906
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv294e214
Frequency
Sample Size2504
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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