A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6388022



Internal ID9683984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:49431985..49435950hg38UCSC Ensembl
Outerchr3:49431948..49436000hg38UCSC Ensembl
Innerchr3:49469418..49473383hg19UCSC Ensembl
Outerchr3:49469381..49473433hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg384053
hg194053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2671211
Supporting Variants
SamplesNA19435
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6388022
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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