A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307182



Internal ID15154130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2773777..2773778hg38UCSC Ensembl
Innerchr6:2773752..2773803hg38UCSC Ensembl
Outerchr6:2773751..2773804hg38UCSC Ensembl
chr6:2774011..2774012hg19UCSC Ensembl
Innerchr6:2773986..2774037hg19UCSC Ensembl
Outerchr6:2773985..2774038hg19UCSC Ensembl
chr6:2719010..2719011hg18UCSC Ensembl
Innerchr6:2719036..2718985hg18UCSC Ensembl
Outerchr6:2718984..2719037hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38270
hg19270
hg18270
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7742988, essv7747798, essv7747281, essv7751423, essv7761839, essv7745432, essv7750747, essv7760989, essv7759349, essv7744469, essv7751281, essv7745646, essv7753813, essv7749152, essv7742817, essv7760793, essv7757442, essv7746815, essv7752034, essv7759844, essv7755063, essv7755295, essv7761649, essv7757320, essv7748603
SamplesNA18947, NA18561, NA18507, NA11920, NA12004, NA12155, NA11992, NA19138, NA18498, NA19238, NA19172, NA12828, NA18605, NA18579, NA18537, NA18566, NA11919, NA18856, NA12892, NA18555, NA19225, NA18523, NA18570, NA18593, NA19147
Known GenesWRNIP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307182
Frequency
Sample Size185
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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