A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634729



Internal ID6674846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63488478..63497832hg38UCSC Ensembl
Innerchr14:63488978..63497332hg38UCSC Ensembl
Outerchr14:63487478..63498832hg38UCSC Ensembl
chr14:63955196..63964550hg19UCSC Ensembl
Innerchr14:63955696..63964050hg19UCSC Ensembl
Outerchr14:63954196..63965550hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg389355
hg199355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15040289, essv15040294, essv15040293, essv15040297, essv15040292, essv15040291, essv15040296, essv15040290, essv15040298, essv15040288, essv15040295
SamplesNA20752, NA20511, NA19788, NA20905, NA20803, HG00231, HG03844, HG01556, NA20769, HG00110, NA12003
Known GenesPPP2R5E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634729
Frequency
Sample Size2504
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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