A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309722



Internal ID14809987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7979380..7979381hg38UCSC Ensembl
Innerchr7:7979362..7979399hg38UCSC Ensembl
Outerchr7:7979361..7979400hg38UCSC Ensembl
chr7:8019011..8019012hg19UCSC Ensembl
Innerchr7:8018993..8019030hg19UCSC Ensembl
Outerchr7:8018992..8019031hg19UCSC Ensembl
chr7:7985536..7985537hg18UCSC Ensembl
Innerchr7:7985555..7985518hg18UCSC Ensembl
Outerchr7:7985517..7985556hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg386045
hg196045
hg186045
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7840476, essv7840114
SamplesNA12891, NA12878
Known GenesGLCCI1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309722
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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