A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674603



Internal ID15038231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189094702..189094709hg38UCSC Ensembl
Innerchr2:189094693..189094716hg38UCSC Ensembl
Outerchr2:189094686..189094723hg38UCSC Ensembl
chr2:189959428..189959435hg19UCSC Ensembl
Innerchr2:189959419..189959442hg19UCSC Ensembl
Outerchr2:189959412..189959449hg19UCSC Ensembl
chr2:189667673..189667680hg18UCSC Ensembl
Innerchr2:189667687..189667664hg18UCSC Ensembl
Outerchr2:189667657..189667694hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38285
hg19285
hg18285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3343221
Supporting Variants
SamplesNA19239
Known GenesCOL5A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674603
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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