A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8974813



Internal ID13411938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43873773..43873791hg38UCSC Ensembl
Innerchr19:43873768..43873794hg38UCSC Ensembl
Outerchr19:43873752..43873812hg38UCSC Ensembl
chr19:44377925..44377943hg19UCSC Ensembl
Innerchr19:44377920..44377946hg19UCSC Ensembl
Outerchr19:44377904..44377964hg19UCSC Ensembl
chr19:49069765..49069783hg18UCSC Ensembl
Innerchr19:49069786..49069760hg18UCSC Ensembl
Outerchr19:49069744..49069804hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381566
hg191566
hg181566
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3405915
Supporting Variants
SamplesNA18498
Known GenesZNF404
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8974813
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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