A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1398e214



Internal ID20122821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50817538..50974129hg38UCSC Ensembl
chr8:51730098..51886689hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38156592
hg19156592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3617186, esv3617185
SamplesNA12750
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1398e214
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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