A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398163



Internal ID15245126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46494470..46496468hg38UCSC Ensembl
Innerchr17:46495468..46495470hg38UCSC Ensembl
Outerchr17:46493470..46497468hg38UCSC Ensembl
chr17:44571836..44573834hg19UCSC Ensembl
Innerchr17:44572834..44572836hg19UCSC Ensembl
Outerchr17:44570836..44574834hg19UCSC Ensembl
chr17:41927152..41929150hg18UCSC Ensembl
Innerchr17:41928152..41928150hg18UCSC Ensembl
Outerchr17:41926152..41930150hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1770e59
Supporting Variantsessv8690915
SamplesNA12891
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398163
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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