A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7741264



Internal ID14995465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231457397..231457398hg38UCSC Ensembl
Innerchr2:231457343..231457452hg38UCSC Ensembl
Outerchr2:231457342..231457453hg38UCSC Ensembl
chr2:232322108..232322109hg19UCSC Ensembl
Innerchr2:232322054..232322163hg19UCSC Ensembl
Outerchr2:232322053..232322164hg19UCSC Ensembl
chr2:232030352..232030353hg18UCSC Ensembl
Innerchr2:232030407..232030298hg18UCSC Ensembl
Outerchr2:232030297..232030408hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38271
hg19271
hg18271
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306627
Supporting Variants
SamplesNA19210
Known GenesNCL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7741264
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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