A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3385965



Internal ID15232935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172529568..172530966hg38UCSC Ensembl
Innerchr3:172529966..172530568hg38UCSC Ensembl
Outerchr3:172528568..172531966hg38UCSC Ensembl
chr3:172247358..172248756hg19UCSC Ensembl
Innerchr3:172247756..172248358hg19UCSC Ensembl
Outerchr3:172246358..172249756hg19UCSC Ensembl
chr3:173730052..173731450hg18UCSC Ensembl
Innerchr3:173731052..173730450hg18UCSC Ensembl
Outerchr3:173729052..173732450hg18UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693882
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3385965
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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