A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644353



Internal ID7031109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40481653..40485104hg38UCSC Ensembl
Innerchr19:40481653..40485104hg38UCSC Ensembl
Outerchr19:40481436..40485380hg38UCSC Ensembl
chr19:40987560..40991011hg19UCSC Ensembl
Innerchr19:40987560..40991011hg19UCSC Ensembl
Outerchr19:40987343..40991287hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383452
hg193452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16054820, essv16054821
SamplesNA18546, HG02373
Known GenesSPTBN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644353
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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