A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691546



Internal ID13708691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4492055..4493353hg38UCSC Ensembl
Innerchr19:4492353..4493055hg38UCSC Ensembl
Outerchr19:4491055..4494353hg38UCSC Ensembl
chr19:4492052..4493350hg19UCSC Ensembl
Innerchr19:4492350..4493052hg19UCSC Ensembl
Outerchr19:4491052..4494350hg19UCSC Ensembl
chr19:4443052..4444350hg18UCSC Ensembl
Innerchr19:4444052..4443350hg18UCSC Ensembl
Outerchr19:4442052..4445350hg18UCSC 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 Variantsesv3413429
Supporting Variants
SamplesNA12891
Known GenesHDGFRP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691546
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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