A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15728030



Internal ID5729846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67932187..67996914hg38UCSC Ensembl
Innerchr17:67932337..67996764hg38UCSC Ensembl
Outerchr17:67932037..67997064hg38UCSC Ensembl
chr17:65928303..65993030hg19UCSC Ensembl
Innerchr17:65928453..65992880hg19UCSC Ensembl
Outerchr17:65928153..65993180hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3864728
hg1964728
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641102
Supporting Variants
SamplesHG02974
Known GenesBPTF, C17orf58
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15728030
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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