A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11122358



Internal ID4120488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:121622179..121654525hg38UCSC Ensembl
Innerchr3:121622180..121654524hg38UCSC Ensembl
Outerchr3:121622178..121654526hg38UCSC Ensembl
chr3:121341026..121373372hg19UCSC Ensembl
Innerchr3:121341027..121373371hg19UCSC Ensembl
Outerchr3:121341025..121373373hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3832347
hg1932347
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597597
Supporting Variants
SamplesHG03740
Known GenesFBXO40, HCLS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11122358
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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