A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv917e214



Internal ID20122340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100604090..100730204hg38UCSC Ensembl
chr3:100322934..100449048hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38126115
hg19126115
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3597175, esv3597177, esv3597178
SamplesHG01348, HG01066, HG01531, HG01522, HG01140, HG01702, HG01676, HG04042, HG01492, HG00736, HG01761, HG01083, HG01110, HG02224, HG01121, HG01603, HG00368, HG01512, HG01334, HG01679, HG00258, NA20801, NA20527, HG01620, HG02239, NA19726, NA19758
Known GenesGPR128, TFG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv917e214
Frequency
Sample Size2504
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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