A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808612



Internal ID13643703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13390252..13397877hg38UCSC Ensembl
Innerchr12:13392242..13396297hg38UCSC Ensembl
Outerchr12:13390142..13397997hg38UCSC Ensembl
chr12:13543186..13550811hg19UCSC Ensembl
Innerchr12:13545176..13549231hg19UCSC Ensembl
Outerchr12:13543076..13550931hg19UCSC Ensembl
chr12:13434453..13442078hg18UCSC Ensembl
Innerchr12:13436443..13440498hg18UCSC Ensembl
Outerchr12:13434343..13442198hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg387626
hg197626
hg187626
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3361427
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808612
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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