A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15720267



Internal ID5722083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62407702..62560090hg38UCSC Ensembl
chr17:60485063..60637451hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38152389
hg19152389
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640974
Supporting Variants
SamplesNA20348
Known GenesEFCAB3, METTL2A, TLK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15720267
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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