A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809156



Internal ID13649047
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 Flag0
Merged StatusS
Merged Variantsesv3451038
Supporting Variants
SamplesNA12878
Known GenesARGFX, EAF2, FBXO40, GOLGB1, HCLS1, IQCB1, POLQ, STXBP5L
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809156
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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