A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13984584



Internal ID1003234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133299029..133316480hg38UCSC Ensembl
chr10:135112533..135129984hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3817452
hg1917452
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625039
Supporting Variants
SamplesHG00626
Known GenesTUBGCP2, ZNF511
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13984584
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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