A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594902



Internal ID6635177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:385774..881756hg38UCSC Ensembl
Innerchr3:385788..881743hg38UCSC Ensembl
Outerchr3:385761..881770hg38UCSC Ensembl
chr3:427457..923439hg19UCSC Ensembl
Innerchr3:427471..923426hg19UCSC Ensembl
Outerchr3:427444..923453hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38495983
hg19495983
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10897491, essv10897490
SamplesHG02238, HG00708
Known GenesCHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594902
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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