A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691421



Internal ID14716222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2111853..2113151hg38UCSC Ensembl
Innerchr19:2112151..2112853hg38UCSC Ensembl
Outerchr19:2110853..2114151hg38UCSC Ensembl
chr19:2111852..2113150hg19UCSC Ensembl
Innerchr19:2112150..2112852hg19UCSC Ensembl
Outerchr19:2110852..2114150hg19UCSC Ensembl
chr19:2062852..2064150hg18UCSC Ensembl
Innerchr19:2063852..2063150hg18UCSC Ensembl
Outerchr19:2061852..2065150hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3396388
Supporting Variants
SamplesNA19239
Known GenesAP3D1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691421
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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