A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15679061



Internal ID5254635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42359619..42372386hg38UCSC Ensembl
chr17:40511637..40524404hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3812768
hg1912768
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640602
Supporting Variants
SamplesNA18635
Known GenesSTAT3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15679061
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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