A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10995408



Internal ID4380132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45450420..45457451hg38UCSC Ensembl
Innerchr3:45450449..45457422hg38UCSC Ensembl
Outerchr3:45450391..45457480hg38UCSC Ensembl
chr3:45491912..45498943hg19UCSC Ensembl
Innerchr3:45491941..45498914hg19UCSC Ensembl
Outerchr3:45491883..45498972hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg387032
hg197032
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596048
Supporting Variants
SamplesHG03907
Known GenesLARS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10995408
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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