A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691554



Internal ID14760140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41229507..41231105hg38UCSC Ensembl
Innerchr19:41230105..41230507hg38UCSC Ensembl
Outerchr19:41228507..41232105hg38UCSC Ensembl
chr19:41735412..41737010hg19UCSC Ensembl
Innerchr19:41736010..41736412hg19UCSC Ensembl
Outerchr19:41734412..41738010hg19UCSC Ensembl
chr19:46427252..46428850hg18UCSC Ensembl
Innerchr19:46428252..46427850hg18UCSC Ensembl
Outerchr19:46426252..46429850hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353863
Supporting Variants
SamplesNA19240
Known GenesAXL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691554
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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