A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303324



Internal ID14803586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7979376..7979377hg38UCSC Ensembl
Innerchr7:7979358..7979395hg38UCSC Ensembl
Outerchr7:7979357..7979396hg38UCSC Ensembl
chr7:8019007..8019008hg19UCSC Ensembl
Innerchr7:8018989..8019026hg19UCSC Ensembl
Outerchr7:8018988..8019027hg19UCSC Ensembl
chr7:7985532..7985533hg18UCSC Ensembl
Innerchr7:7985551..7985514hg18UCSC Ensembl
Outerchr7:7985513..7985552hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg386009
hg196009
hg186009
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7800940, essv7790041, essv7833763, essv7773831, essv7808294, essv7835023, essv7772586, essv7778554
SamplesNA12043, NA11931, NA12763, NA12814, NA12144, NA12892, NA18522, NA12878
Known GenesGLCCI1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303324
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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