A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428728



Internal ID14928998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12830310..12833109hg38UCSC Ensembl
Innerchr1:12831311..12832109hg38UCSC Ensembl
Outerchr1:12829306..12834110hg38UCSC Ensembl
chr1:12890165..12892963hg19UCSC Ensembl
Innerchr1:12891165..12891963hg19UCSC Ensembl
Outerchr1:12889165..12893963hg19UCSC Ensembl
chr1:12812752..12815550hg18UCSC Ensembl
Innerchr1:12813752..12814550hg18UCSC Ensembl
Outerchr1:12811752..12816550hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg382800
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691774
SamplesNA12878
Known GenesPRAMEF11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428728
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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