A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674592



Internal ID13343552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188298289..188298295hg38UCSC Ensembl
Innerchr2:188298281..188298301hg38UCSC Ensembl
Outerchr2:188298277..188298307hg38UCSC Ensembl
chr2:189163016..189163022hg19UCSC Ensembl
Innerchr2:189163008..189163028hg19UCSC Ensembl
Outerchr2:189163004..189163034hg19UCSC Ensembl
chr2:188871261..188871267hg18UCSC Ensembl
Innerchr2:188871273..188871253hg18UCSC Ensembl
Outerchr2:188871249..188871279hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38279
hg19279
hg18279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3348168
Supporting Variants
SamplesNA12891
Known GenesGULP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674592
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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