A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625043



Internal ID7011883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133327691..133373131hg38UCSC Ensembl
chr10:135141195..135186635hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3845441
hg1945441
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13984598, essv13984599, essv13984596, essv13984597
SamplesHG01779, NA20910, NA20862, NA20516
Known GenesCALY, ECHS1, FUOM, MIR3944, PRAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625043
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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