A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596127



Internal ID6983444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49512155..49520853hg38UCSC Ensembl
Innerchr3:49512155..49520853hg38UCSC Ensembl
Outerchr3:49511655..49521353hg38UCSC Ensembl
chr3:49549588..49558286hg19UCSC Ensembl
Innerchr3:49549588..49558286hg19UCSC Ensembl
Outerchr3:49549088..49558786hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388699
hg198699
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11009406
SamplesHG02522
Known GenesDAG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596127
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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