A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15990793



Internal ID5992609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11409466..11411198hg38UCSC Ensembl
Innerchr19:11409516..11411148hg38UCSC Ensembl
Outerchr19:11409416..11411248hg38UCSC Ensembl
chr19:11520142..11521874hg19UCSC Ensembl
Innerchr19:11520192..11521824hg19UCSC Ensembl
Outerchr19:11520092..11521924hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381733
hg191733
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643672
Supporting Variants
SamplesNA20890
Known GenesRGL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15990793
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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