A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676676



Internal ID9942781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:53988696..53992022hg38UCSC Ensembl
Outerchr10:53988659..53992072hg38UCSC Ensembl
Innerchr10:55748456..55751782hg19UCSC Ensembl
Outerchr10:55748419..55751832hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg383414
hg193414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5899142
SamplesNA19437
Known GenesPCDH15
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676676
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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