A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12076993



Internal ID458635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140836164..140842460hg38UCSC Ensembl
chr5:140215749..140222045hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg386297
hg196297
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606956
Supporting Variants
SamplesHG00145
Known GenesPCDHA1, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12076993
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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