A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691560



Internal ID13321448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41918160..41919358hg38UCSC Ensembl
Innerchr19:41918358..41919160hg38UCSC Ensembl
Outerchr19:41917160..41920358hg38UCSC Ensembl
chr19:42422312..42423510hg19UCSC Ensembl
Innerchr19:42422510..42423312hg19UCSC Ensembl
Outerchr19:42421312..42424510hg19UCSC Ensembl
chr19:47114152..47115350hg18UCSC Ensembl
Innerchr19:47115152..47114350hg18UCSC Ensembl
Outerchr19:47113152..47116350hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3398456
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691560
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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