A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3379241



Internal ID14879513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63654307..63654326hg38UCSC Ensembl
Innerchr17:63654303..63654330hg38UCSC Ensembl
Outerchr17:63654284..63654349hg38UCSC Ensembl
chr17:61731667..61731686hg19UCSC Ensembl
Innerchr17:61731663..61731690hg19UCSC Ensembl
Outerchr17:61731644..61731709hg19UCSC Ensembl
chr17:59085399..59085418hg18UCSC Ensembl
Innerchr17:59085422..59085395hg18UCSC Ensembl
Outerchr17:59085376..59085441hg18UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9674559, essv9674536, essv9674547
SamplesNA11840, NA07346, NA12045
Known GenesMAP3K3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3379241
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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