A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310012



Internal ID15156963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4471993..4471994hg38UCSC Ensembl
Innerchr1:4471954..4472033hg38UCSC Ensembl
Outerchr1:4471953..4472034hg38UCSC Ensembl
chr1:4532053..4532054hg19UCSC Ensembl
Innerchr1:4532014..4532093hg19UCSC Ensembl
Outerchr1:4532013..4532094hg19UCSC Ensembl
chr1:4431913..4431914hg18UCSC Ensembl
Innerchr1:4431953..4431874hg18UCSC Ensembl
Outerchr1:4431873..4431954hg18UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38146
hg19146
hg18146
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837624, essv7837087
SamplesNA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310012
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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