A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8673440



Internal ID15033299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:52321127..52321149hg38UCSC Ensembl
Innerchr17:52321128..52321145hg38UCSC Ensembl
Outerchr17:52321106..52321170hg38UCSC Ensembl
chr17:50398487..50398509hg19UCSC Ensembl
Innerchr17:50398488..50398505hg19UCSC Ensembl
Outerchr17:50398466..50398530hg19UCSC Ensembl
chr17:47753486..47753508hg18UCSC Ensembl
Innerchr17:47753504..47753487hg18UCSC Ensembl
Outerchr17:47753465..47753529hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38249
hg19249
hg18249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3362757
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8673440
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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