A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309004



Internal ID14809267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2773771..2773772hg38UCSC Ensembl
Innerchr6:2773743..2773800hg38UCSC Ensembl
Outerchr6:2773742..2773801hg38UCSC Ensembl
chr6:2774005..2774006hg19UCSC Ensembl
Innerchr6:2773977..2774034hg19UCSC Ensembl
Outerchr6:2773976..2774035hg19UCSC Ensembl
chr6:2719004..2719005hg18UCSC Ensembl
Innerchr6:2719033..2718976hg18UCSC Ensembl
Outerchr6:2718975..2719034hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38193
hg19193
hg18193
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838939, essv7837938
SamplesNA19238, NA12892
Known GenesWRNIP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309004
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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