A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11309343



Internal ID4496945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197121103..197122363hg38UCSC Ensembl
Innerchr3:197121127..197122340hg38UCSC Ensembl
Outerchr3:197121080..197122387hg38UCSC Ensembl
chr3:196847974..196849234hg19UCSC Ensembl
Innerchr3:196847998..196849211hg19UCSC Ensembl
Outerchr3:196847951..196849258hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381261
hg191261
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599302
Supporting Variants
SamplesHG03998
Known GenesDLG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11309343
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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