A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056513



Internal ID512727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42788026..43058715hg38UCSC Ensembl
Innerchr19:42788526..43058215hg38UCSC Ensembl
Outerchr19:42787026..43059715hg38UCSC Ensembl
chr19:43292178..43562867hg19UCSC Ensembl
Innerchr19:43292678..43562367hg19UCSC Ensembl
Outerchr19:43291178..43563867hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38270690
hg19270690
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644410
Supporting Variants
SamplesHG00183
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16056513
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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