A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11275351



Internal ID1657845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192934582..192968408hg38UCSC Ensembl
Innerchr3:192934582..192968408hg38UCSC Ensembl
Outerchr3:192934082..192968908hg38UCSC Ensembl
chr3:192652371..192686197hg19UCSC Ensembl
Innerchr3:192652371..192686197hg19UCSC Ensembl
Outerchr3:192651871..192686697hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3833827
hg1933827
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599166
Supporting Variants
SamplesHG01522
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11275351
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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