A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692301



Internal ID14720352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:3409528..3410226hg38UCSC Ensembl
Innerchr1:3409527..3410227hg38UCSC Ensembl
Outerchr1:3408528..3411226hg38UCSC Ensembl
chr1:3326092..3326790hg19UCSC Ensembl
Innerchr1:3326091..3326791hg19UCSC Ensembl
Outerchr1:3325092..3327790hg19UCSC Ensembl
chr1:3315952..3316650hg18UCSC Ensembl
Innerchr1:3316651..3315951hg18UCSC Ensembl
Outerchr1:3314952..3317650hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3347804
Supporting Variants
SamplesNA19239
Known GenesPRDM16
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692301
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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