A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9958793



Internal ID6584086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66190422..66204458hg38UCSC Ensembl
Innerchr1:66190472..66204408hg38UCSC Ensembl
Outerchr1:66190372..66204508hg38UCSC Ensembl
chr1:66656105..66670141hg19UCSC Ensembl
Innerchr1:66656155..66670091hg19UCSC Ensembl
Outerchr1:66656055..66670191hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3814037
hg1914037
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586294
Supporting Variants
SamplesHG02332
Known GenesPDE4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9958793
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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