A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691547



Internal ID13667947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4492155..4493453hg38UCSC Ensembl
Innerchr19:4492453..4493155hg38UCSC Ensembl
Outerchr19:4491155..4494453hg38UCSC Ensembl
chr19:4492152..4493450hg19UCSC Ensembl
Innerchr19:4492450..4493152hg19UCSC Ensembl
Outerchr19:4491152..4494450hg19UCSC Ensembl
chr19:4443152..4444450hg18UCSC Ensembl
Innerchr19:4444152..4443450hg18UCSC Ensembl
Outerchr19:4442152..4445450hg18UCSC 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 Variantsesv3380840
Supporting Variants
SamplesNA12878
Known GenesHDGFRP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691547
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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