A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691418



Internal ID14716226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18770342..18771740hg38UCSC Ensembl
Innerchr19:18770740..18771342hg38UCSC Ensembl
Outerchr19:18769342..18772740hg38UCSC Ensembl
chr19:18881152..18882550hg19UCSC Ensembl
Innerchr19:18881550..18882152hg19UCSC Ensembl
Outerchr19:18880152..18883550hg19UCSC Ensembl
chr19:18742152..18743550hg18UCSC Ensembl
Innerchr19:18743152..18742550hg18UCSC Ensembl
Outerchr19:18741152..18744550hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3366303
Supporting Variants
SamplesNA19239
Known GenesCRTC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691418
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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