A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054817



Internal ID6056633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40470246..40471754hg38UCSC Ensembl
Innerchr19:40470296..40471704hg38UCSC Ensembl
Outerchr19:40470196..40471804hg38UCSC Ensembl
chr19:40976153..40977661hg19UCSC Ensembl
Innerchr19:40976203..40977611hg19UCSC Ensembl
Outerchr19:40976103..40977711hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381509
hg191509
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644351
Supporting Variants
SamplesNA18876
Known GenesSPTBN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054817
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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