A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640170



Internal ID6680257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18931639..19014522hg38UCSC Ensembl
chr17:18834952..18917835hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3882884
hg1982884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv565e214
Supporting Variantsessv15647899
SamplesHG01136
Known GenesFAM83G, SLC5A10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640170
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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