A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5409092



Internal ID8386495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47500010..47587479hg38UCSC Ensembl
Outerchr10:47500010..47587849hg38UCSC Ensembl
Innerchr10:48896616..48986422hg19UCSC Ensembl
Outerchr10:48896245..48986792hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3887840
hg1990548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673473
Supporting Variants
SamplesHG00611
Known GenesBMS1P1, BMS1P5, GLUD1P7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5409092
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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