A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3363871



Internal ID14864132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54833185..54834483hg38UCSC Ensembl
Innerchr19:54833483..54834185hg38UCSC Ensembl
Outerchr19:54832185..54835483hg38UCSC Ensembl
chr19:55344640..55345938hg19UCSC Ensembl
Innerchr19:55344938..55345640hg19UCSC Ensembl
Outerchr19:55343640..55346938hg19UCSC Ensembl
chr19:60036452..60037750hg18UCSC Ensembl
Innerchr19:60037452..60036750hg18UCSC Ensembl
Outerchr19:60035452..60038750hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691639
SamplesNA19239
Known GenesKIR2DS4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3363871
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer