A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596180



Internal ID6983497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54453354..54466013hg38UCSC Ensembl
Innerchr3:54453358..54466010hg38UCSC Ensembl
Outerchr3:54453351..54466017hg38UCSC Ensembl
chr3:54487381..54500040hg19UCSC Ensembl
Innerchr3:54487385..54500037hg19UCSC Ensembl
Outerchr3:54487378..54500044hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3812660
hg1912660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11015492, essv11015488, essv11015487, essv11015491, essv11015489, essv11015490
SamplesHG03895, HG03009, HG04225, NA20856, HG03727, NA20888
Known GenesCACNA2D3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596180
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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