A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643531



Internal ID6683602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5630614..5635001hg38UCSC Ensembl
Innerchr19:5630659..5634956hg38UCSC Ensembl
Outerchr19:5630569..5635046hg38UCSC Ensembl
chr19:5630625..5635012hg19UCSC Ensembl
Innerchr19:5630670..5634967hg19UCSC Ensembl
Outerchr19:5630580..5635057hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384388
hg194388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15984117
SamplesHG01811
Known GenesSAFB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643531
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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