A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1364e214



Internal ID22757258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6579833..6598624hg38UCSC Ensembl
chr8:6437354..6456145hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3818792
hg1918792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3616095, esv3616096
SamplesHG01707
Known GenesMCPH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1364e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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