A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691595



Internal ID14760275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48821483..48822981hg38UCSC Ensembl
Innerchr19:48821981..48822483hg38UCSC Ensembl
Outerchr19:48820483..48823981hg38UCSC Ensembl
chr19:49324740..49326238hg19UCSC Ensembl
Innerchr19:49325238..49325740hg19UCSC Ensembl
Outerchr19:49323740..49327238hg19UCSC Ensembl
chr19:54016552..54018050hg18UCSC Ensembl
Innerchr19:54017552..54017050hg18UCSC Ensembl
Outerchr19:54015552..54019050hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3359840
Supporting Variants
SamplesNA19240
Known GenesHSD17B14
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691595
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