A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634921



Internal ID6675035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73857179..73861177hg38UCSC Ensembl
Innerchr14:73857180..73861177hg38UCSC Ensembl
Outerchr14:73857179..73861178hg38UCSC Ensembl
chr14:74323882..74327880hg19UCSC Ensembl
Innerchr14:74323883..74327880hg19UCSC Ensembl
Outerchr14:74323882..74327881hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg383999
hg193999
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15060883, essv15060881, essv15060878, essv15060875, essv15060884, essv15060882, essv15060877, essv15060876, essv15060880, essv15060879, essv15060885
SamplesHG02574, HG03518, HG02589, NA20278, HG03363, NA19462, NA19072, HG03039, HG03258, HG03538, NA19146
Known GenesPTGR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634921
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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