A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11129759



Internal ID2498800
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597654
Supporting Variants
SamplesHG02220
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11129759
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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