A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3626224



Internal ID7013058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:48103578..48154713hg38UCSC Ensembl
chr11:48125130..48176265hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3851136
hg1951136
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14123831, essv14123829, essv14123830, essv14123828
SamplesNA19355, HG00556, NA19321, NA19312
Known GenesPTPRJ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3626224
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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