A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1097e214



Internal ID22756991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42828450..42958998hg38UCSC Ensembl
chr5:42828552..42959100hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38130549
hg19130549
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3604884, esv3604882
SamplesNA12717, NA18599
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1097e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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