A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8936332



Internal ID13061902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92122224..92122239hg38UCSC Ensembl
Innerchr7:92122214..92122247hg38UCSC Ensembl
Outerchr7:92122199..92122262hg38UCSC Ensembl
chr7:91751538..91751553hg19UCSC Ensembl
Innerchr7:91751528..91751561hg19UCSC Ensembl
Outerchr7:91751513..91751576hg19UCSC Ensembl
chr7:91589474..91589489hg18UCSC Ensembl
Innerchr7:91589497..91589464hg18UCSC Ensembl
Outerchr7:91589449..91589512hg18UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg38254
hg19254
hg18254
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3372054
Supporting Variants
SamplesNA07346
Known GenesCYP51A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8936332
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