A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5848289



Internal ID8825692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:3165525..3165772hg38UCSC Ensembl
Outerchr1:3165487..3165835hg38UCSC Ensembl
Innerchr1:3082089..3082336hg19UCSC Ensembl
Outerchr1:3082051..3082399hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2662377
Supporting Variants
SamplesHG01462
Known GenesPRDM16
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5848289
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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