A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598037



Internal ID6985173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:144517288..144522483hg38UCSC Ensembl
Innerchr3:144517288..144522483hg38UCSC Ensembl
Outerchr3:144517058..144522818hg38UCSC Ensembl
chr3:144236130..144241325hg19UCSC Ensembl
Innerchr3:144236130..144241325hg19UCSC Ensembl
Outerchr3:144235900..144241660hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg385196
hg195196
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11166375, essv11166372, essv11166376, essv11166373, essv11166377, essv11166374
SamplesHG03556, NA19917, HG01049, NA19395, HG02938, NA19346
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598037
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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