A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14924342



Internal ID4926158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20683687..20720960hg38UCSC Ensembl
chr14:21151846..21189119hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3837274
hg1937274
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633687
Supporting Variants
SamplesNA21117
Known GenesANG, RNASE4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14924342
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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