A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691552



Internal ID14716799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41229507..41231005hg38UCSC Ensembl
Innerchr19:41230005..41230507hg38UCSC Ensembl
Outerchr19:41228507..41232005hg38UCSC Ensembl
chr19:41735412..41736910hg19UCSC Ensembl
Innerchr19:41735910..41736412hg19UCSC Ensembl
Outerchr19:41734412..41737910hg19UCSC Ensembl
chr19:46427252..46428750hg18UCSC Ensembl
Innerchr19:46428252..46427750hg18UCSC Ensembl
Outerchr19:46426252..46429750hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3452160
Supporting Variants
SamplesNA19239
Known GenesAXL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691552
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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