A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8644249



Internal ID15141903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171438910..171438910hg38UCSC Ensembl
Innerchr2:171438909..171438911hg38UCSC Ensembl
Outerchr2:171438870..171438930hg38UCSC Ensembl
chr2:172295420..172295420hg19UCSC Ensembl
Innerchr2:172295419..172295421hg19UCSC Ensembl
Outerchr2:172295380..172295440hg19UCSC Ensembl
chr2:172003666..172003666hg18UCSC Ensembl
Innerchr2:172003667..172003665hg18UCSC Ensembl
Outerchr2:172003626..172003686hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38104
hg19104
hg18104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3437307
Supporting Variants
Samples
Known GenesDCAF17
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8644249
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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