A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10905373



Internal ID907189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4418363..4483416hg38UCSC Ensembl
Innerchr3:4418390..4483390hg38UCSC Ensembl
Outerchr3:4418337..4483443hg38UCSC Ensembl
chr3:4460047..4525100hg19UCSC Ensembl
Innerchr3:4460074..4525074hg19UCSC Ensembl
Outerchr3:4460021..4525127hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3865054
hg1965054
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595104
Supporting Variants
SamplesHG03234
Known GenesSUMF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10905373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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