A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5901127



Internal ID9380681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:183067201..183067352hg38UCSC Ensembl
Outerchr2:183067164..183067402hg38UCSC Ensembl
Innerchr2:183931929..183932080hg19UCSC Ensembl
Outerchr2:183931892..183932130hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2657072
Supporting Variants
SamplesNA18573
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5901127
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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