A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635049



Internal ID7021849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:79604451..79605769hg38UCSC Ensembl
Innerchr14:79604451..79605769hg38UCSC Ensembl
Outerchr14:79604179..79606079hg38UCSC Ensembl
chr14:80070794..80072112hg19UCSC Ensembl
Innerchr14:80070794..80072112hg19UCSC Ensembl
Outerchr14:80070522..80072422hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381319
hg191319
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15075886, essv15075885, essv15075889, essv15075888, essv15075884, essv15075890, essv15075891, essv15075887
SamplesHG02153, HG00448, HG03736, HG03604, NA18574, HG00675, NA18559, HG02064
Known GenesNRXN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635049
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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