A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429588



Internal ID14929858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74893587..74893587hg38UCSC Ensembl
Innerchr17:74893586..74893588hg38UCSC Ensembl
Outerchr17:74893473..74893637hg38UCSC Ensembl
chr17:72889685..72889685hg19UCSC Ensembl
Innerchr17:72889684..72889686hg19UCSC Ensembl
Outerchr17:72889625..72889735hg19UCSC Ensembl
chr17:70401280..70401280hg18UCSC Ensembl
Innerchr17:70401281..70401279hg18UCSC Ensembl
Outerchr17:70401220..70401330hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8819581
SamplesNA12878
Known GenesFADS6
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429588
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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