A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3348452



Internal ID15195434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210653859..210654028hg38UCSC Ensembl
Innerchr1:210653859..210654028hg38UCSC Ensembl
Outerchr1:210653680..210654040hg38UCSC Ensembl
chr1:210827203..210827372hg19UCSC Ensembl
Innerchr1:210827203..210827372hg19UCSC Ensembl
Outerchr1:210827024..210827384hg19UCSC Ensembl
chr1:208893826..208893995hg18UCSC Ensembl
Innerchr1:208893826..208893995hg18UCSC Ensembl
Outerchr1:208893647..208894007hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38170
hg19170
hg18170
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652062
SamplesNA19240
Known GenesHHAT
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3348452
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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