A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635043



Internal ID7021843
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15074343, essv15074341, essv15074340, essv15074344, essv15074342
SamplesHG00271, HG00178, NA18941, HG00342, NA18622
Known GenesNRXN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635043
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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