A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16075212



Internal ID6077095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49369405..49379222hg38UCSC Ensembl
Innerchr19:49369423..49379204hg38UCSC Ensembl
Outerchr19:49369387..49379240hg38UCSC Ensembl
chr19:49872662..49882479hg19UCSC Ensembl
Innerchr19:49872680..49882461hg19UCSC Ensembl
Outerchr19:49872644..49882497hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg389818
hg199818
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644622
Supporting Variants
SamplesNA20765
Known GenesDKKL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16075212
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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