A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669454



Internal ID9588873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:17590796..17593440hg38UCSC Ensembl
chr10:17632795..17635439hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg382645
hg192645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6230173
SamplesHG00472
Known GenesPTPLA
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669454
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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