A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11269135



Internal ID996189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:190361787..190370018hg38UCSC Ensembl
Innerchr3:190362287..190369518hg38UCSC Ensembl
Outerchr3:190360787..190371018hg38UCSC Ensembl
chr3:190079576..190087807hg19UCSC Ensembl
Innerchr3:190080076..190087307hg19UCSC Ensembl
Outerchr3:190078576..190088807hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg388232
hg198232
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599074
Supporting Variants
SamplesHG00622
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11269135
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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