A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10917793



Internal ID5835561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:9597568..9602152hg38UCSC Ensembl
Innerchr3:9597588..9602133hg38UCSC Ensembl
Outerchr3:9597549..9602172hg38UCSC Ensembl
chr3:9639252..9643836hg19UCSC Ensembl
Innerchr3:9639272..9643817hg19UCSC Ensembl
Outerchr3:9639233..9643856hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg384585
hg194585
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595245
Supporting Variants
SamplesNA19209
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10917793
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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