A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8910053



Internal ID13083338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189094696..189094706hg38UCSC Ensembl
Innerchr2:189094688..189094714hg38UCSC Ensembl
Outerchr2:189094675..189094724hg38UCSC Ensembl
chr2:189959422..189959432hg19UCSC Ensembl
Innerchr2:189959414..189959440hg19UCSC Ensembl
Outerchr2:189959401..189959450hg19UCSC Ensembl
chr2:189667667..189667677hg18UCSC Ensembl
Innerchr2:189667685..189667659hg18UCSC Ensembl
Outerchr2:189667646..189667695hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3337890
Supporting Variants
SamplesNA12249
Known GenesCOL5A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8910053
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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