A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639785



Internal ID6679875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4503415..4557005hg38UCSC Ensembl
chr17:4406710..4460300hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3853591
hg1953591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15595093, essv15595091, essv15595092
SamplesNA19031, HG01804, NA19468
Known GenesGGT6, MYBBP1A, SPNS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639785
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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