A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7796430



Internal ID14685791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32132250..32132251hg38UCSC Ensembl
Innerchr13:32132233..32132268hg38UCSC Ensembl
Outerchr13:32132232..32132269hg38UCSC Ensembl
chr13:32706387..32706388hg19UCSC Ensembl
Innerchr13:32706370..32706405hg19UCSC Ensembl
Outerchr13:32706369..32706406hg19UCSC Ensembl
chr13:31604387..31604388hg18UCSC Ensembl
Innerchr13:31604405..31604370hg18UCSC Ensembl
Outerchr13:31604369..31604406hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38293
hg19293
hg18293
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306941
Supporting Variants
SamplesNA18965
Known GenesFRY
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7796430
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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