A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12079230



Internal ID2081046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141389770..141397963hg38UCSC Ensembl
chr5:140769337..140777530hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg388194
hg198194
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606984
Supporting Variants
SamplesHG03515
Known GenesPCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12079230
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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