A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12079227



Internal ID2081043
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606983
Supporting Variants
SamplesHG01312
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGB1, PCDHGB2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12079227
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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