A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv557e214



Internal ID18980732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4142251..4216890hg38UCSC Ensembl
chr17:4045545..4120185hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3874640
hg1974641
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3639769, esv3639770
SamplesHG03461, HG02804
Known GenesANKFY1, CYB5D2, ZZEF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv557e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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