A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8690666



Internal ID14679990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21290347..21309645hg38UCSC Ensembl
Innerchr17:21291347..21308645hg38UCSC Ensembl
Outerchr17:21289347..21310645hg38UCSC Ensembl
chr17:21193659..21212957hg19UCSC Ensembl
Innerchr17:21194659..21211957hg19UCSC Ensembl
Outerchr17:21192659..21213957hg19UCSC Ensembl
chr17:21134252..21153550hg18UCSC Ensembl
Innerchr17:21135252..21152550hg18UCSC Ensembl
Outerchr17:21133252..21154550hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3819299
hg1919299
hg1819299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3389999
Supporting Variants
SamplesNA19238
Known GenesMAP2K3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8690666
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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