A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7780218



Internal ID13356131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100461107..100461108hg38UCSC Ensembl
Innerchr9:100461089..100461126hg38UCSC Ensembl
Outerchr9:100461088..100461127hg38UCSC Ensembl
chr9:103223389..103223390hg19UCSC Ensembl
Innerchr9:103223371..103223408hg19UCSC Ensembl
Outerchr9:103223370..103223409hg19UCSC Ensembl
chr9:102263210..102263211hg18UCSC Ensembl
Innerchr9:102263229..102263192hg18UCSC Ensembl
Outerchr9:102263191..102263230hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38269
hg19269
hg18269
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306071
Supporting Variants
SamplesNA12891
Known GenesMSANTD3-TMEFF1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7780218
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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