A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676217



Internal ID9595636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:61041409..61051431hg38UCSC Ensembl
chr17:59118770..59128792hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3810023
hg1910023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5846434, essv5895059
SamplesHG00258, HG00325
Known GenesBCAS3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676217
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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