A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5939081



Internal ID8916484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:222720110..222720685hg38UCSC Ensembl
Outerchr1:222719953..222720838hg38UCSC Ensembl
Innerchr1:222893452..222894027hg19UCSC Ensembl
Outerchr1:222893295..222894180hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38886
hg19886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2668629
Supporting Variants
SamplesNA18964
Known GenesBROX
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5939081
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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