A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3392289



Internal ID14892568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167055964..167057197hg38UCSC Ensembl
Innerchr1:167055964..167057197hg38UCSC Ensembl
Outerchr1:167055601..167057342hg38UCSC Ensembl
chr1:167025201..167026434hg19UCSC Ensembl
Innerchr1:167025201..167026434hg19UCSC Ensembl
Outerchr1:167024838..167026579hg19UCSC Ensembl
chr1:165291825..165293058hg18UCSC Ensembl
Innerchr1:165291825..165293058hg18UCSC Ensembl
Outerchr1:165291462..165293203hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg381234
hg191234
hg181234
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652048
SamplesNA19240
Known GenesGPA33
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3392289
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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