A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691407



Internal ID15062836
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 StatusS
Merged Variantsesv3333730
Supporting Variants
SamplesNA19239
Known GenesPKN1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691407
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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