A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11283894



Internal ID1285710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194442598..194496907hg38UCSC Ensembl
Innerchr3:194442598..194496907hg38UCSC Ensembl
Outerchr3:194442098..194497407hg38UCSC Ensembl
chr3:194163327..194217636hg19UCSC Ensembl
Innerchr3:194163327..194217636hg19UCSC Ensembl
Outerchr3:194162827..194218136hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3854310
hg1954310
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599198
Supporting Variants
SamplesHG02371
Known GenesATP13A3, LINC00884
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11283894
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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