A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635031



Internal ID7021831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:78529829..78531139hg38UCSC Ensembl
Innerchr14:78529829..78531139hg38UCSC Ensembl
Outerchr14:78529526..78531288hg38UCSC Ensembl
chr14:78996172..78997482hg19UCSC Ensembl
Innerchr14:78996172..78997482hg19UCSC Ensembl
Outerchr14:78995869..78997631hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381311
hg191311
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15071499, essv15071496, essv15071497, essv15071498
SamplesNA21107, NA20884, NA20875, NA19185
Known GenesNRXN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635031
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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