A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15114330



Internal ID5116146
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635594
Supporting Variants
SamplesHG02888
Known GenesMARK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15114330
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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