A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15980355



Internal ID5982171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4155768..4164271hg38UCSC Ensembl
Innerchr19:4155795..4164244hg38UCSC Ensembl
Outerchr19:4155741..4164298hg38UCSC Ensembl
chr19:4155765..4164268hg19UCSC Ensembl
Innerchr19:4155792..4164241hg19UCSC Ensembl
Outerchr19:4155738..4164295hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg388504
hg198504
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643489
Supporting Variants
SamplesNA18998
Known GenesCREB3L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15980355
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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