A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11272626



Internal ID785261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191550149..191666199hg38UCSC Ensembl
Innerchr3:191550149..191666199hg38UCSC Ensembl
Outerchr3:191549649..191666699hg38UCSC Ensembl
chr3:191267938..191383988hg19UCSC Ensembl
Innerchr3:191267938..191383988hg19UCSC Ensembl
Outerchr3:191267438..191384488hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38116051
hg19116051
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599111
Supporting Variants
SamplesHG00371
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11272626
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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