A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5752033



Internal ID9068363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:50395417..50411480hg38UCSC Ensembl
chr1:50861089..50877152hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3816064
hg1916064
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661763
Supporting Variants
SamplesHG00736
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5752033
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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