A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3414281



Internal ID14914554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3408228..3410326hg38UCSC Ensembl
Innerchr1:3409228..3409326hg38UCSC Ensembl
Outerchr1:3407228..3411326hg38UCSC Ensembl
chr1:3324792..3326890hg19UCSC Ensembl
Innerchr1:3325792..3325890hg19UCSC Ensembl
Outerchr1:3323792..3327890hg19UCSC Ensembl
chr1:3314652..3316750hg18UCSC Ensembl
Innerchr1:3315652..3315750hg18UCSC Ensembl
Outerchr1:3313652..3317750hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692300
SamplesNA19240
Known GenesPRDM16
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3414281
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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