A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597597



Internal ID6984736
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11122358
SamplesHG03740
Known GenesFBXO40, HCLS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597597
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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