A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672007



Internal ID9591426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1525020..1526795hg38UCSC Ensembl
chr17:1428314..1430089hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381776
hg191776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5686079
SamplesHG00318
Known GenesPITPNA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672007
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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