A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11269506



Internal ID2111440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191192059..191204244hg38UCSC Ensembl
Innerchr3:191192559..191203744hg38UCSC Ensembl
Outerchr3:191191059..191205244hg38UCSC Ensembl
chr3:190909848..190922033hg19UCSC Ensembl
Innerchr3:190910348..190921533hg19UCSC Ensembl
Outerchr3:190908848..190923033hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3812186
hg1912186
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599093
Supporting Variants
SamplesHG01920
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11269506
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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