A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307459



Internal ID15154407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105600202..105600203hg38UCSC Ensembl
Innerchr2:105600175..105600230hg38UCSC Ensembl
Outerchr2:105600174..105600231hg38UCSC Ensembl
chr2:106216659..106216660hg19UCSC Ensembl
Innerchr2:106216632..106216687hg19UCSC Ensembl
Outerchr2:106216631..106216688hg19UCSC Ensembl
chr2:105583091..105583092hg18UCSC Ensembl
Innerchr2:105583119..105583064hg18UCSC Ensembl
Outerchr2:105583063..105583120hg18UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg386027
hg196027
hg186027
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7758273, essv7749159, essv7760069, essv7742149, essv7762243, essv7744451, essv7756034
SamplesNA18870, NA18519, NA18489, NA18498, NA18856, NA18501, NA18522
Known GenesLOC285000
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307459
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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