A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11268724



Internal ID4967084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190267069..190275207hg38UCSC Ensembl
Innerchr3:190267569..190274707hg38UCSC Ensembl
Outerchr3:190266069..190276207hg38UCSC Ensembl
chr3:189984858..189992996hg19UCSC Ensembl
Innerchr3:189985358..189992496hg19UCSC Ensembl
Outerchr3:189983858..189993996hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg388139
hg198139
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599070
Supporting Variants
SamplesNA12872
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11268724
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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