A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9958787



Internal ID6584080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66051565..66052831hg38UCSC Ensembl
Innerchr1:66051567..66052829hg38UCSC Ensembl
Outerchr1:66051563..66052833hg38UCSC Ensembl
chr1:66517248..66518514hg19UCSC Ensembl
Innerchr1:66517250..66518512hg19UCSC Ensembl
Outerchr1:66517246..66518516hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381267
hg191267
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586291
Supporting Variants
SamplesHG01111
Known GenesPDE4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9958787
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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