A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606983



Internal ID6647225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141352280..141361411hg38UCSC Ensembl
chr5:140731847..140740978hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg389132
hg199132
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12079228, essv12079226, essv12079227
SamplesHG01312, NA20519, HG00740
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGB1, PCDHGB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606983
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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