A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3375589



Internal ID15222564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77718075..77719173hg38UCSC Ensembl
Innerchr17:77718173..77719075hg38UCSC Ensembl
Outerchr17:77717075..77720173hg38UCSC Ensembl
chr17:75714157..75715255hg19UCSC Ensembl
Innerchr17:75714255..75715157hg19UCSC Ensembl
Outerchr17:75713157..75716255hg19UCSC Ensembl
chr17:73225752..73226850hg18UCSC Ensembl
Innerchr17:73226752..73225850hg18UCSC Ensembl
Outerchr17:73224752..73227850hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691034
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3375589
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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