A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643519



Internal ID7030278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4937485..4940534hg38UCSC Ensembl
Innerchr19:4937520..4940499hg38UCSC Ensembl
Outerchr19:4937450..4940569hg38UCSC Ensembl
chr19:4937497..4940546hg19UCSC Ensembl
Innerchr19:4937532..4940511hg19UCSC Ensembl
Outerchr19:4937462..4940581hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383050
hg193050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15982257
SamplesHG01699
Known GenesUHRF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643519
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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