A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054558



Internal ID4398422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39409525..39412059hg38UCSC Ensembl
Innerchr19:39409568..39412017hg38UCSC Ensembl
Outerchr19:39409483..39412102hg38UCSC Ensembl
chr19:39900165..39902699hg19UCSC Ensembl
Innerchr19:39900208..39902657hg19UCSC Ensembl
Outerchr19:39900123..39902742hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382535
hg192535
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644328
Supporting Variants
SamplesHG03917
Known GenesMIR4530
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054558
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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