A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5983237



Internal ID8960640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:99947840..99949498hg38UCSC Ensembl
Outerchr10:99947803..99949548hg38UCSC Ensembl
Innerchr10:101707597..101709255hg19UCSC Ensembl
Outerchr10:101707560..101709305hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg381746
hg191746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2678240
Supporting Variants
SamplesNA19060
Known GenesDNMBP, DNMBP-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5983237
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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