A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635578



Internal ID7022377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103182516..103185352hg38UCSC Ensembl
Innerchr14:103182516..103185352hg38UCSC Ensembl
Outerchr14:103182254..103185647hg38UCSC Ensembl
chr14:103648853..103651689hg19UCSC Ensembl
Innerchr14:103648853..103651689hg19UCSC Ensembl
Outerchr14:103648591..103651984hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg382837
hg192837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15114179, essv15114175, essv15114181, essv15114178, essv15114182, essv15114183, essv15114180, essv15114176, essv15114177
SamplesNA18877, HG03558, HG02420, NA18908, HG03343, NA18910, HG03124, NA19147, NA19185
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635578
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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