A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3371262



Internal ID14871521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31515458..31515472hg38UCSC Ensembl
Innerchr17:31515449..31515479hg38UCSC Ensembl
Outerchr17:31515435..31515493hg38UCSC Ensembl
chr17:29842476..29842490hg19UCSC Ensembl
Innerchr17:29842467..29842497hg19UCSC Ensembl
Outerchr17:29842453..29842511hg19UCSC Ensembl
chr17:26866596..26866610hg18UCSC Ensembl
Innerchr17:26866617..26866587hg18UCSC Ensembl
Outerchr17:26866573..26866631hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38235
hg19235
hg18235
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8971331, essv8971341, essv8971328, essv8971340, essv8971329, essv8971346, essv8971332, essv8971339, essv8971344, essv8971338, essv8971334, essv8971335, essv8971345, essv8971343, essv8971333, essv8971330, essv8971342
SamplesNA11881, NA12249, NA11920, NA12776, NA11919, NA12763, NA07357, NA12761, NA18973, NA12144, NA12751, NA07346, NA12716, NA18579, NA11992, NA12003, NA12045
Known GenesRAB11FIP4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3371262
Frequency
Sample Size185
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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