A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1283e214



Internal ID22757177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42096148..42129267hg38UCSC Ensembl
chr7:42135747..42168866hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3833120
hg1933120
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3612953, esv3612954
SamplesHG03770, NA19917
Known GenesGLI3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1283e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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