A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13800478



Internal ID3802294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:45901586..45995693hg38UCSC Ensembl
chr10:51600129..51694240hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3894108
hg1994112
Variant TypeCNV gain
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623189
Supporting Variants
SamplesHG01628
Known GenesTIMM23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13800478
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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