A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305460



Internal ID14805722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17114628..17114629hg38UCSC Ensembl
Innerchr1:17114601..17114656hg38UCSC Ensembl
Outerchr1:17114600..17114657hg38UCSC Ensembl
chr1:17441123..17441124hg19UCSC Ensembl
Innerchr1:17441096..17441151hg19UCSC Ensembl
Outerchr1:17441095..17441152hg19UCSC Ensembl
chr1:17313710..17313711hg18UCSC Ensembl
Innerchr1:17313738..17313683hg18UCSC Ensembl
Outerchr1:17313682..17313739hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg38180
hg19180
hg18180
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7756230, essv7752737, essv7746912, essv7758201, essv7744629, essv7761430, essv7744319, essv7749234, essv7750186, essv7743175, essv7756324, essv7762283, essv7741691, essv7760271, essv7740897, essv7749714, essv7755485, essv7754097
SamplesNA18502, NA18486, NA18870, NA18489, NA18916, NA19138, NA18498, NA19137, NA19239, NA18499, NA18856, NA18912, NA18853, NA19108, NA19093, NA19116, NA18505, NA18522
Known GenesPADI2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305460
Frequency
Sample Size185
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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