A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1074e214



Internal ID20122497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:13791991..14184173hg38UCSC Ensembl
chr5:13792100..14184282hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38392183
hg19392183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3604077, esv3604076
SamplesHG03175
Known GenesDNAH5, TRIO
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1074e214
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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