A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397579



Internal ID15244542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233562708..233577886hg38UCSC Ensembl
Innerchr2:233564288..233577414hg38UCSC Ensembl
Outerchr2:233562682..233577886hg38UCSC Ensembl
chr2:234471354..234486532hg19UCSC Ensembl
Innerchr2:234472934..234486060hg19UCSC Ensembl
Outerchr2:234471328..234486532hg19UCSC Ensembl
chr2:234134549..234151245hg18UCSC Ensembl
Innerchr2:234136539..234149665hg18UCSC Ensembl
Outerchr2:234134439..234151365hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3815179
hg1915179
hg1816697
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8809100
SamplesNA12878
Known GenesUSP40
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397579
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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