A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3365990



Internal ID14866250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66045712..66045750hg38UCSC Ensembl
Innerchr1:66045713..66045747hg38UCSC Ensembl
Outerchr1:66045677..66045785hg38UCSC Ensembl
chr1:66511395..66511433hg19UCSC Ensembl
Innerchr1:66511396..66511430hg19UCSC Ensembl
Outerchr1:66511360..66511468hg19UCSC Ensembl
chr1:66283983..66284021hg18UCSC Ensembl
Innerchr1:66284018..66283984hg18UCSC Ensembl
Outerchr1:66283948..66284056hg18UCSC 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 Variantsessv8899278, essv8899277
SamplesNA18861, NA18504
Known GenesPDE4B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3365990
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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