A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16072724



Internal ID6073697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48367054..48374962hg38UCSC Ensembl
Innerchr19:48367204..48374812hg38UCSC Ensembl
Outerchr19:48366904..48375112hg38UCSC Ensembl
chr19:48870311..48878219hg19UCSC Ensembl
Innerchr19:48870461..48878069hg19UCSC Ensembl
Outerchr19:48870161..48878369hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg387909
hg197909
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644586
Supporting Variants
SamplesHG02089
Known GenesSYNGR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16072724
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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