A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056196



Internal ID4819860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42043542..42050087hg38UCSC Ensembl
Innerchr19:42043564..42050066hg38UCSC Ensembl
Outerchr19:42043521..42050109hg38UCSC Ensembl
chr19:42547694..42554239hg19UCSC Ensembl
Innerchr19:42547716..42554218hg19UCSC Ensembl
Outerchr19:42547673..42554261hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg386546
hg196546
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644397
Supporting Variants
SamplesNA12006
Known GenesGRIK5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16056196
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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