A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305407



Internal ID14805669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111639402..111639403hg38UCSC Ensembl
Innerchr1:111639369..111639436hg38UCSC Ensembl
Outerchr1:111639368..111639437hg38UCSC Ensembl
chr1:112182024..112182025hg19UCSC Ensembl
Innerchr1:112181991..112182058hg19UCSC Ensembl
Outerchr1:112181990..112182059hg19UCSC Ensembl
chr1:111983547..111983548hg18UCSC Ensembl
Innerchr1:111983581..111983514hg18UCSC Ensembl
Outerchr1:111983513..111983582hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381577
hg191577
hg181577
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7746687, essv7754188, essv7746534, essv7754948, essv7745008, essv7760354, essv7757105, essv7749043, essv7751988, essv7749062, essv7758633
SamplesNA18523, NA18952, NA18973, NA12716, NA18858, NA18552, NA19138, NA18909, NA19116, NA11830, NA12003
Known GenesRAP1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305407
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer