A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7841136



Internal ID13720972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92122221..92122222hg38UCSC Ensembl
Innerchr7:92122204..92122239hg38UCSC Ensembl
Outerchr7:92122203..92122240hg38UCSC Ensembl
chr7:91751535..91751536hg19UCSC Ensembl
Innerchr7:91751518..91751553hg19UCSC Ensembl
Outerchr7:91751517..91751554hg19UCSC Ensembl
chr7:91589471..91589472hg18UCSC Ensembl
Innerchr7:91589489..91589454hg18UCSC Ensembl
Outerchr7:91589453..91589490hg18UCSC 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 Variantsesv3308042
Supporting Variants
SamplesNA12892
Known GenesCYP51A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7841136
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