A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308644



Internal ID15155593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:57915200..57915201hg38UCSC Ensembl
Innerchr17:57915144..57915257hg38UCSC Ensembl
Outerchr17:57915143..57915258hg38UCSC Ensembl
chr17:55992561..55992562hg19UCSC Ensembl
Innerchr17:55992505..55992618hg19UCSC Ensembl
Outerchr17:55992504..55992619hg19UCSC Ensembl
chr17:53347560..53347561hg18UCSC Ensembl
Innerchr17:53347617..53347504hg18UCSC Ensembl
Outerchr17:53347503..53347618hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38129
hg19129
hg18129
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836746, essv7837903, essv7838396, essv7838113
SamplesNA12891, NA19239, NA12878, NA12892
Known GenesCUEDC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308644
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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