A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672085



Internal ID9591504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:66009622..66010683hg38UCSC Ensembl
Outerchr1:66009585..66010733hg38UCSC Ensembl
Innerchr1:66475305..66476366hg19UCSC Ensembl
Outerchr1:66475268..66476416hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381149
hg191149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6359251
SamplesNA18940
Known GenesPDE4B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672085
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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