A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1396e214



Internal ID22757290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:50239831..50286578hg38UCSC Ensembl
chr8:51152391..51199138hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3846748
hg1946748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3617164, esv3617165
SamplesNA18602, HG01131
Known GenesSNTG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1396e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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