A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11265050



Internal ID4577420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:188959158..188969706hg38UCSC Ensembl
Innerchr3:188959158..188969706hg38UCSC Ensembl
Outerchr3:188959068..188969848hg38UCSC Ensembl
chr3:188676947..188687495hg19UCSC Ensembl
Innerchr3:188676947..188687495hg19UCSC Ensembl
Outerchr3:188676857..188687637hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3810549
hg1910549
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599044
Supporting Variants
SamplesHG04093
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11265050
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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