A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15982233



Internal ID5984049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4745336..4759181hg38UCSC Ensembl
Innerchr19:4745836..4758681hg38UCSC Ensembl
Outerchr19:4744336..4760181hg38UCSC Ensembl
chr19:4745348..4759193hg19UCSC Ensembl
Innerchr19:4745848..4758693hg19UCSC Ensembl
Outerchr19:4744348..4760193hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3813846
hg1913846
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643510
Supporting Variants
SamplesHG02702
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15982233
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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