A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440875



Internal ID15287828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14443440..14444938hg38UCSC Ensembl
Innerchr19:14443938..14444440hg38UCSC Ensembl
Outerchr19:14442440..14445938hg38UCSC Ensembl
chr19:14554252..14555750hg19UCSC Ensembl
Innerchr19:14554750..14555252hg19UCSC Ensembl
Outerchr19:14553252..14556750hg19UCSC Ensembl
chr19:14415252..14416750hg18UCSC Ensembl
Innerchr19:14416252..14415750hg18UCSC Ensembl
Outerchr19:14414252..14417750hg18UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1989e59
Supporting Variantsessv8691409
SamplesNA19240
Known GenesPKN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440875
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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