A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691561



Internal ID14682843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41918160..41920958hg38UCSC Ensembl
Innerchr19:41919160..41919958hg38UCSC Ensembl
Outerchr19:41917160..41921958hg38UCSC Ensembl
chr19:42422312..42425110hg19UCSC Ensembl
Innerchr19:42423312..42424110hg19UCSC Ensembl
Outerchr19:42421312..42426110hg19UCSC Ensembl
chr19:47114152..47116950hg18UCSC Ensembl
Innerchr19:47115152..47115950hg18UCSC Ensembl
Outerchr19:47113152..47117950hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382799
hg192799
hg182799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3371770
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691561
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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