A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3326171



Internal ID14826451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224909808..224909808hg38UCSC Ensembl
Innerchr2:224909807..224909809hg38UCSC Ensembl
Outerchr2:224909768..224909828hg38UCSC Ensembl
chr2:225774525..225774525hg19UCSC Ensembl
Innerchr2:225774524..225774526hg19UCSC Ensembl
Outerchr2:225774485..225774545hg19UCSC Ensembl
chr2:225482769..225482769hg18UCSC Ensembl
Innerchr2:225482770..225482768hg18UCSC Ensembl
Outerchr2:225482729..225482789hg18UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3897
hg1997
hg1897
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8644451
Samples
Known GenesDOCK10
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3326171
Frequency
Sample Size185
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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