A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7744497



Internal ID13415575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43873776..43873777hg38UCSC Ensembl
Innerchr19:43873745..43873808hg38UCSC Ensembl
Outerchr19:43873744..43873809hg38UCSC Ensembl
chr19:44377928..44377929hg19UCSC Ensembl
Innerchr19:44377897..44377960hg19UCSC Ensembl
Outerchr19:44377896..44377961hg19UCSC Ensembl
chr19:49069768..49069769hg18UCSC Ensembl
Innerchr19:49069800..49069737hg18UCSC Ensembl
Outerchr19:49069736..49069801hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381583
hg191583
hg181583
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303886
Supporting Variants
SamplesNA18498
Known GenesZNF404
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7744497
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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