A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308042



Internal ID15154990
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 StatusM
Merged Variants
Supporting Variantsessv7840000, essv7841136
SamplesNA12878, NA12892
Known GenesCYP51A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308042
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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