A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596184



Internal ID6983501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54604456..54608560hg38UCSC Ensembl
Innerchr3:54604476..54608540hg38UCSC Ensembl
Outerchr3:54604436..54608580hg38UCSC Ensembl
chr3:54638483..54642587hg19UCSC Ensembl
Innerchr3:54638503..54642567hg19UCSC Ensembl
Outerchr3:54638463..54642607hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg384105
hg194105
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11015496
SamplesNA19144
Known GenesCACNA2D3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596184
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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