A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635057



Internal ID7021857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79819760..79821166hg38UCSC Ensembl
Innerchr14:79819760..79821166hg38UCSC Ensembl
Outerchr14:79819596..79821410hg38UCSC Ensembl
chr14:80286103..80287509hg19UCSC Ensembl
Innerchr14:80286103..80287509hg19UCSC Ensembl
Outerchr14:80285939..80287753hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381407
hg191407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15076712, essv15076713, essv15076717, essv15076715, essv15076710, essv15076714, essv15076716, essv15076709, essv15076711, essv15076708
SamplesHG01885, NA18489, HG02471, HG02442, HG01384, HG01889, HG01197, HG02484, HG03313, HG03303
Known GenesNRXN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635057
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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