A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380329



Internal ID14880602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:21523118..29424510hg38UCSC Ensembl
Innerchr5:21525108..29422930hg38UCSC Ensembl
Outerchr5:21523008..29424630hg38UCSC Ensembl
chr5:21523227..29424617hg19UCSC Ensembl
Innerchr5:21525217..29423037hg19UCSC Ensembl
Outerchr5:21523117..29424737hg19UCSC Ensembl
chr5:21558984..29460374hg18UCSC Ensembl
Innerchr5:21560974..29458794hg18UCSC Ensembl
Outerchr5:21558874..29460494hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg387901393
hg197901391
hg187901391
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8809318
SamplesNA12878
Known GenesCDH10, CDH12, CDH9, GUSBP1, LINC01021, LOC101929681, LOC340107, LSP1P3, PMCHL1, PRDM9
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380329
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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