A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv565e214



Internal ID20121988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18920166..19019319hg38UCSC Ensembl
chr17:18823479..18922632hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3899154
hg1999154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3640169, esv3640170
SamplesHG01136, HG02577
Known GenesFAM83G, PRPSAP2, SLC5A10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv565e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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