A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3451038



Internal ID14951299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:121190964..121858500hg38UCSC Ensembl
Innerchr3:121192954..121856920hg38UCSC Ensembl
Outerchr3:121190854..121858620hg38UCSC Ensembl
chr3:120909811..121577347hg19UCSC Ensembl
Innerchr3:120911801..121575767hg19UCSC Ensembl
Outerchr3:120909701..121577467hg19UCSC Ensembl
chr3:122392501..123060037hg18UCSC Ensembl
Innerchr3:122394491..123058457hg18UCSC Ensembl
Outerchr3:122392391..123060157hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38667537
hg19667537
hg18667537
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8809156
SamplesNA12878
Known GenesARGFX, EAF2, FBXO40, GOLGB1, HCLS1, IQCB1, POLQ, STXBP5L
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3451038
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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