A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15987274



Internal ID3047340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7396498..7398481hg38UCSC Ensembl
Innerchr19:7396566..7398414hg38UCSC Ensembl
Outerchr19:7396431..7398549hg38UCSC Ensembl
chr19:7461384..7463367hg19UCSC Ensembl
Innerchr19:7461452..7463300hg19UCSC Ensembl
Outerchr19:7461317..7463435hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381984
hg191984
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643584
Supporting Variants
SamplesHG02681
Known GenesARHGEF18
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15987274
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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