A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326511



Internal ID15173493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23455572..23457470hg38UCSC Ensembl
Innerchr1:23456470..23456572hg38UCSC Ensembl
Outerchr1:23454572..23458470hg38UCSC Ensembl
chr1:23782065..23783963hg19UCSC Ensembl
Innerchr1:23782963..23783065hg19UCSC Ensembl
Outerchr1:23781065..23784963hg19UCSC Ensembl
chr1:23654652..23656550hg18UCSC Ensembl
Innerchr1:23655652..23655550hg18UCSC Ensembl
Outerchr1:23653652..23657550hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692194
SamplesNA19239
Known GenesASAP3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326511
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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