A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16072681



Internal ID5580432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48144728..48150925hg38UCSC Ensembl
Innerchr19:48144752..48150901hg38UCSC Ensembl
Outerchr19:48144704..48150949hg38UCSC Ensembl
chr19:48647985..48654182hg19UCSC Ensembl
Innerchr19:48648009..48654158hg19UCSC Ensembl
Outerchr19:48647961..48654206hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386198
hg196198
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644577
Supporting Variants
SamplesNA19024
Known GenesLIG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16072681
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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