A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1374e214



Internal ID22757268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11539500..11634394hg38UCSC Ensembl
chr8:11397009..11491903hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3894895
hg1994895
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3616252, esv3616251
SamplesHG03045, HG01176, HG01200
Known GenesBLK, LINC00208
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1374e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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