A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390461



Internal ID14890742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1646728..1647126hg38UCSC Ensembl
chr1:1581089..1583487hg19UCSC Ensembl
Innerchr1:1582089..1582487hg19UCSC Ensembl
Outerchr1:1580089..1584487hg19UCSC Ensembl
chr1:1570952..1573350hg18UCSC Ensembl
Innerchr1:1571952..1572350hg18UCSC Ensembl
Outerchr1:1569952..1574350hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38399
hg192399
hg182399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691995
SamplesNA12878
Known GenesCDK11B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390461
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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