A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16079941



Internal ID4802024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51042076..51044203hg38UCSC Ensembl
Innerchr19:51042082..51044198hg38UCSC Ensembl
Outerchr19:51042071..51044209hg38UCSC Ensembl
chr19:51545333..51547460hg19UCSC Ensembl
Innerchr19:51545339..51547455hg19UCSC Ensembl
Outerchr19:51545328..51547466hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg382128
hg192128
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644666
Supporting Variants
SamplesNA11933
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16079941
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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