A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15074342



Internal ID729507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79280963..79281600hg38UCSC Ensembl
Innerchr14:79281022..79281550hg38UCSC Ensembl
Outerchr14:79280763..79281800hg38UCSC Ensembl
chr14:79747306..79747943hg19UCSC Ensembl
Innerchr14:79747365..79747893hg19UCSC Ensembl
Outerchr14:79747106..79748143hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg38638
hg19638
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635043
Supporting Variants
SamplesHG00342
Known GenesNRXN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15074342
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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