A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5738040



Internal ID9815124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152522738..152525336hg38UCSC Ensembl
Outerchr1:152522701..152525386hg38UCSC Ensembl
Innerchr1:152495214..152497812hg19UCSC Ensembl
Outerchr1:152495177..152497862hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382686
hg192686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2657922
Supporting Variants
SamplesNA19921
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5738040
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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