A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644586



Internal ID6684652
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16072724
SamplesHG02089
Known GenesSYNGR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644586
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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