A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16003833



Internal ID6005649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17884296..17885007hg38UCSC Ensembl
Innerchr19:17884323..17884981hg38UCSC Ensembl
Outerchr19:17884270..17885034hg38UCSC Ensembl
chr19:17995105..17995816hg19UCSC Ensembl
Innerchr19:17995132..17995790hg19UCSC Ensembl
Outerchr19:17995079..17995843hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38712
hg19712
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643826
Supporting Variants
SamplesNA19328
Known GenesSLC5A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16003833
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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