A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598600



Internal ID6985736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169688494..169689200hg38UCSC Ensembl
Innerchr3:169688506..169689189hg38UCSC Ensembl
Outerchr3:169688483..169689212hg38UCSC Ensembl
chr3:169406282..169406988hg19UCSC Ensembl
Innerchr3:169406294..169406977hg19UCSC Ensembl
Outerchr3:169406271..169407000hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38707
hg19707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11222025, essv11222026
SamplesNA19446, NA19404
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598600
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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