A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11014142



Internal ID4596355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53427584..53467104hg38UCSC Ensembl
Innerchr3:53427621..53467067hg38UCSC Ensembl
Outerchr3:53427547..53467141hg38UCSC Ensembl
chr3:53461611..53501131hg19UCSC Ensembl
Innerchr3:53461648..53501094hg19UCSC Ensembl
Outerchr3:53461574..53501168hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3839521
hg1939521
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596170
Supporting Variants
SamplesHG04107
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11014142
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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