A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3346391



Internal ID15193373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177297948..177297948hg38UCSC Ensembl
Innerchr2:177297947..177297949hg38UCSC Ensembl
Outerchr2:177297888..177297998hg38UCSC Ensembl
chr2:178162676..178162676hg19UCSC Ensembl
Innerchr2:178162675..178162677hg19UCSC Ensembl
Outerchr2:178162616..178162726hg19UCSC Ensembl
chr2:177870922..177870922hg18UCSC Ensembl
Innerchr2:177870923..177870921hg18UCSC Ensembl
Outerchr2:177870862..177870972hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8830163
SamplesNA19240
Known GenesLOC100130691
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3346391
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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