A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv590e214



Internal ID20122013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79690513..79707682hg38UCSC Ensembl
chr17:77664437..77681491hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3817170
hg1917055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3641354, esv3641352
SamplesHG02733
Known GenesMIR4739
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv590e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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