A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3429501



Internal ID15276457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64896572..64897370hg38UCSC Ensembl
Innerchr17:64896571..64897371hg38UCSC Ensembl
Outerchr17:64895572..64898370hg38UCSC Ensembl
chr17:62892690..62893488hg19UCSC Ensembl
Innerchr17:62892689..62893489hg19UCSC Ensembl
Outerchr17:62891690..62894488hg19UCSC Ensembl
chr17:60323152..60323950hg18UCSC Ensembl
Innerchr17:60323951..60323151hg18UCSC Ensembl
Outerchr17:60322152..60324950hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8690977
SamplesNA12878
Known GenesLRRC37A3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3429501
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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