A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586293



Internal ID6626606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66158747..66165624hg38UCSC Ensembl
Innerchr1:66158747..66165624hg38UCSC Ensembl
Outerchr1:66158648..66165748hg38UCSC Ensembl
chr1:66624430..66631307hg19UCSC Ensembl
Innerchr1:66624430..66631307hg19UCSC Ensembl
Outerchr1:66624331..66631431hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg386878
hg196878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9958792
SamplesNA19397
Known GenesPDE4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586293
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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