A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635594



Internal ID6675707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103388531..103402677hg38UCSC Ensembl
Innerchr14:103388541..103402668hg38UCSC Ensembl
Outerchr14:103388522..103402687hg38UCSC Ensembl
chr14:103854868..103869014hg19UCSC Ensembl
Innerchr14:103854878..103869005hg19UCSC Ensembl
Outerchr14:103854859..103869024hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg3814147
hg1914147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15114332, essv15114331, essv15114330, essv15114333
SamplesHG02888, NA19327, NA19395, NA19351
Known GenesMARK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635594
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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