A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1273e214



Internal ID22757167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:16874244..17009134hg38UCSC Ensembl
chr7:16913868..17048758hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38134891
hg19134891
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3612407, esv3612406
SamplesHG02891, HG01779, HG01673, HG01675, HG02455
Known GenesAGR3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1273e214
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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