A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307756



Internal ID15154704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55230866..55230867hg38UCSC Ensembl
Innerchr17:55230836..55230897hg38UCSC Ensembl
Outerchr17:55230835..55230898hg38UCSC Ensembl
chr17:53308227..53308228hg19UCSC Ensembl
Innerchr17:53308197..53308258hg19UCSC Ensembl
Outerchr17:53308196..53308259hg19UCSC Ensembl
chr17:50663226..50663227hg18UCSC Ensembl
Innerchr17:50663257..50663196hg18UCSC Ensembl
Outerchr17:50663195..50663258hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7745645, essv7752189, essv7757988, essv7759356, essv7749866, essv7740445, essv7741960, essv7760791, essv7755303, essv7748635, essv7743641, essv7748089, essv7748920, essv7748710, essv7752323, essv7762405
SamplesNA18558, NA18960, NA18571, NA18951, NA18956, NA18572, NA18537, NA18566, NA18532, NA18555, NA18570, NA18593, NA18608, NA18961, NA06986, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307756
Frequency
Sample Size185
Observed Gain16
Observed Loss0
Observed Complex0
Frequencyn/a


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