A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691559



Internal ID14760163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41918060..41921558hg38UCSC Ensembl
Innerchr19:41919060..41920558hg38UCSC Ensembl
Outerchr19:41917060..41922558hg38UCSC Ensembl
chr19:42422212..42425710hg19UCSC Ensembl
Innerchr19:42423212..42424710hg19UCSC Ensembl
Outerchr19:42421212..42426710hg19UCSC Ensembl
chr19:47114052..47117550hg18UCSC Ensembl
Innerchr19:47115052..47116550hg18UCSC Ensembl
Outerchr19:47113052..47118550hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383499
hg193499
hg183499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3432488
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691559
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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