A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662665



Internal ID9928770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54517083..54517442hg38UCSC Ensembl
Outerchr2:54517049..54517477hg38UCSC Ensembl
Innerchr2:54744220..54744579hg19UCSC Ensembl
Outerchr2:54744186..54744614hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38429
hg19429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv700e199
Supporting Variantsessv6541059, essv6459054, essv6159543, essv5458790, essv5403659, essv5788653, essv5788196, essv5440125, essv6235740, essv5983207
SamplesNA18861, NA11920, NA18916, NA11994, NA18566, NA19099, NA12749, NA19474, NA19116, NA19129
Known GenesSPTBN1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662665
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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