A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11269509



Internal ID1271325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191225726..191310300hg38UCSC Ensembl
Innerchr3:191225761..191310266hg38UCSC Ensembl
Outerchr3:191225692..191310335hg38UCSC Ensembl
chr3:190943515..191028089hg19UCSC Ensembl
Innerchr3:190943550..191028055hg19UCSC Ensembl
Outerchr3:190943481..191028124hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3884575
hg1984575
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599094
Supporting Variants
SamplesHG01791
Known GenesOSTN, UTS2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11269509
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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