A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3354785



Internal ID15201766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:115664232..115664243hg38UCSC Ensembl
Innerchr3:115664225..115664250hg38UCSC Ensembl
Outerchr3:115664214..115664261hg38UCSC Ensembl
chr3:115383079..115383090hg19UCSC Ensembl
Innerchr3:115383072..115383097hg19UCSC Ensembl
Outerchr3:115383061..115383108hg19UCSC Ensembl
chr3:116865769..116865780hg18UCSC Ensembl
Innerchr3:116865787..116865762hg18UCSC Ensembl
Outerchr3:116865751..116865798hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8915111, essv8915088, essv8915093, essv8915110, essv8915098, essv8915099, essv8915115, essv8915117, essv8915090, essv8915086, essv8915095, essv8915109, essv8915085, essv8915105, essv8915100, essv8915104, essv8915087, essv8915112, essv8915106, essv8915097, essv8915107, essv8915094, essv8915084, essv8915101, essv8915103, essv8915116, essv8915096, essv8915089, essv8915092, essv8915108
SamplesNA12717, NA18947, NA11829, NA10851, NA18980, NA11920, NA11931, NA18959, NA07357, NA18563, NA18547, NA18960, NA18942, NA11992, NA12156, NA11831, NA10847, NA18951, NA12489, NA11919, NA19257, NA18593, NA18576, NA12043, NA18564, NA12763, NA19102, NA12006, NA18511, NA07000
Known GenesGAP43
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3354785
Frequency
Sample Size185
Observed Gain30
Observed Loss0
Observed Complex0
Frequencyn/a


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