A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6151950



Internal ID9129353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:49480583..49480916hg38UCSC Ensembl
Outerchr3:49480426..49481069hg38UCSC Ensembl
Innerchr3:49518016..49518349hg19UCSC Ensembl
Outerchr3:49517859..49518502hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2666668
Supporting Variants
SamplesHG01067
Known GenesDAG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6151950
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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