A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5562533



Internal ID9027531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247991251..247992291hg38UCSC Ensembl
chr1:248154553..248155593hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381041
hg191041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2678148
Supporting Variants
SamplesHG00653
Known GenesOR2L13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5562533
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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