A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056239



Internal ID6058055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42530390..42531854hg38UCSC Ensembl
Innerchr19:42530440..42531804hg38UCSC Ensembl
Outerchr19:42530260..42531984hg38UCSC Ensembl
chr19:43034542..43036006hg19UCSC Ensembl
Innerchr19:43034592..43035956hg19UCSC Ensembl
Outerchr19:43034412..43036136hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381465
hg191465
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644400
Supporting Variants
SamplesHG03352
Known GenesLIPE-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16056239
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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