A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11273046



Internal ID6258721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192085612..192095192hg38UCSC Ensembl
Innerchr3:192085612..192095192hg38UCSC Ensembl
Outerchr3:192085112..192095692hg38UCSC Ensembl
chr3:191803401..191812981hg19UCSC Ensembl
Innerchr3:191803401..191812981hg19UCSC Ensembl
Outerchr3:191802901..191813481hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg389581
hg199581
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599135
Supporting Variants
SamplesNA19780
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11273046
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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