A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402340



Internal ID14902616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66096593..66096612hg38UCSC Ensembl
Innerchr1:66096589..66096616hg38UCSC Ensembl
Outerchr1:66096570..66096635hg38UCSC Ensembl
chr1:66562276..66562295hg19UCSC Ensembl
Innerchr1:66562272..66562299hg19UCSC Ensembl
Outerchr1:66562253..66562318hg19UCSC Ensembl
chr1:66334864..66334883hg18UCSC Ensembl
Innerchr1:66334887..66334860hg18UCSC Ensembl
Outerchr1:66334841..66334906hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9594624
SamplesNA19143
Known GenesPDE4B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402340
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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