A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056055



Internal ID6057871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41417796..41423703hg38UCSC Ensembl
Innerchr19:41417946..41423553hg38UCSC Ensembl
Outerchr19:41417646..41423853hg38UCSC Ensembl
chr19:41923701..41929608hg19UCSC Ensembl
Innerchr19:41923851..41929458hg19UCSC Ensembl
Outerchr19:41923551..41929758hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385908
hg195908
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644379
Supporting Variants
SamplesHG03461
Known GenesBCKDHA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16056055
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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