A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11306777



Internal ID1319282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196319942..196322830hg38UCSC Ensembl
Innerchr3:196319988..196322785hg38UCSC Ensembl
Outerchr3:196319897..196322876hg38UCSC Ensembl
chr3:196046813..196049701hg19UCSC Ensembl
Innerchr3:196046859..196049656hg19UCSC Ensembl
Outerchr3:196046768..196049747hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382889
hg192889
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599280
Supporting Variants
SamplesHG01167
Known GenesTM4SF19-TCTEX1D2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11306777
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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