A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13941371



Internal ID547156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:114913721..114991007hg38UCSC Ensembl
chr10:116673480..116750766hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3877287
hg1977287
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3624625
Supporting Variants
SamplesHG00238
Known GenesTRUB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13941371
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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