A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15621851



Internal ID3501764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:14586322..14729604hg38UCSC Ensembl
chr17:14489639..14632921hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38143283
hg19143283
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640042
Supporting Variants
SamplesHG03109
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15621851
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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