A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1347e214



Internal ID22757241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157262531..157275415hg38UCSC Ensembl
chr7:157055225..157068109hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3812885
hg1912885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3615685, esv3615686
SamplesHG03132, HG01841
Known GenesUBE3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1347e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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