A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15987728



Internal ID2085306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8132013..8133348hg38UCSC Ensembl
Innerchr19:8132074..8133288hg38UCSC Ensembl
Outerchr19:8131953..8133409hg38UCSC Ensembl
chr19:8196897..8198232hg19UCSC Ensembl
Innerchr19:8196958..8198172hg19UCSC Ensembl
Outerchr19:8196837..8198293hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381336
hg191336
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643604
Supporting Variants
SamplesHG01892
Known GenesFBN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15987728
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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