A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659423



Internal ID9925529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:125167353..125170826hg38UCSC Ensembl
chr10:126855922..126859395hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg383474
hg193474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6026256, essv5537882, essv5403409, essv6547266, essv6231994, essv6342672, essv6119574
SamplesHG00325, HG00149, NA19717, HG00375, HG00280, HG00377, HG00372
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659423
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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