A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444941



Internal ID14945207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:79042675..79043673hg38UCSC Ensembl
Innerchr17:79042674..79043674hg38UCSC Ensembl
Outerchr17:79041675..79044673hg38UCSC Ensembl
chr17:77038757..77039755hg19UCSC Ensembl
Innerchr17:77038756..77039756hg19UCSC Ensembl
Outerchr17:77037757..77040755hg19UCSC Ensembl
chr17:74550352..74551350hg18UCSC Ensembl
Innerchr17:74551351..74550351hg18UCSC Ensembl
Outerchr17:74549352..74552350hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1825e59
Supporting Variantsessv8691039
SamplesNA19238
Known GenesC1QTNF1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444941
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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