A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7782047



Internal ID14911237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92122218..92122219hg38UCSC Ensembl
Innerchr7:92122200..92122237hg38UCSC Ensembl
Outerchr7:92122199..92122238hg38UCSC Ensembl
chr7:91751532..91751533hg19UCSC Ensembl
Innerchr7:91751514..91751551hg19UCSC Ensembl
Outerchr7:91751513..91751552hg19UCSC Ensembl
chr7:91589468..91589469hg18UCSC Ensembl
Innerchr7:91589487..91589450hg18UCSC Ensembl
Outerchr7:91589449..91589488hg18UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg38298
hg19298
hg18298
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306173
Supporting Variants
SamplesNA19141
Known GenesCYP51A1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7782047
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer