A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15174352



Internal ID2332416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22786232..23120073hg38UCSC Ensembl
chr15:22752995..23086836hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38333842
hg19333842
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635806
Supporting Variants
SamplesHG02075
Known GenesCYFIP1, NIPA1, NIPA2, TUBGCP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15174352
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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