A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597654



Internal ID6984793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125377104..125378862hg38UCSC Ensembl
Innerchr3:125377107..125378859hg38UCSC Ensembl
Outerchr3:125377101..125378865hg38UCSC Ensembl
chr3:125095948..125097706hg19UCSC Ensembl
Innerchr3:125095951..125097703hg19UCSC Ensembl
Outerchr3:125095945..125097709hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg381759
hg191759
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11129758, essv11129759
SamplesHG02143, HG02220
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597654
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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