A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6130010



Internal ID9107413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8245941..8246078hg38UCSC Ensembl
chr17:8149259..8149396hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2676105
Supporting Variants
SamplesHG00580
Known GenesCTC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6130010
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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