A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16044800



Internal ID1449121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:34779132..34787032hg38UCSC Ensembl
Innerchr19:34779132..34787032hg38UCSC Ensembl
Outerchr19:34778981..34787232hg38UCSC Ensembl
chr19:35270036..35277936hg19UCSC Ensembl
Innerchr19:35270036..35277936hg19UCSC Ensembl
Outerchr19:35269885..35278136hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg387901
hg197901
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644216
Supporting Variants
SamplesHG01342
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16044800
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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