A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596145



Internal ID6983462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50484404..50491248hg38UCSC Ensembl
Innerchr3:50484404..50491248hg38UCSC Ensembl
Outerchr3:50484238..50491425hg38UCSC Ensembl
chr3:50521835..50528679hg19UCSC Ensembl
Innerchr3:50521835..50528679hg19UCSC Ensembl
Outerchr3:50521669..50528856hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386845
hg196845
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11011065
SamplesNA20885
Known GenesCACNA2D2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596145
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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