A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv587e214



Internal ID20122010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74105938..74249469hg38UCSC Ensembl
chr17:72102077..72245608hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38143532
hg19143532
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3641233, esv3641232
SamplesNA06989, HG01242, NA12348
Known GenesMGC16275, RPL38, TTYH2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv587e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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