A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309072



Internal ID14809335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189094698..189094699hg38UCSC Ensembl
Innerchr2:189094682..189094715hg38UCSC Ensembl
Outerchr2:189094681..189094716hg38UCSC Ensembl
chr2:189959424..189959425hg19UCSC Ensembl
Innerchr2:189959408..189959441hg19UCSC Ensembl
Outerchr2:189959407..189959442hg19UCSC Ensembl
chr2:189667669..189667670hg18UCSC Ensembl
Innerchr2:189667686..189667653hg18UCSC Ensembl
Outerchr2:189667652..189667687hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7840787, essv7842151, essv7842646, essv7839774, essv7842916, essv7841411
SamplesNA19239, NA12892, NA19238, NA12891, NA12878, NA19240
Known GenesCOL5A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309072
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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