A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15114334



Internal ID5116150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103476060..103478313hg38UCSC Ensembl
Innerchr14:103476060..103478313hg38UCSC Ensembl
Outerchr14:103475913..103478468hg38UCSC Ensembl
chr14:103942397..103944650hg19UCSC Ensembl
Innerchr14:103942397..103944650hg19UCSC Ensembl
Outerchr14:103942250..103944805hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg382254
hg192254
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635595
Supporting Variants
SamplesHG01372
Known GenesMARK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15114334
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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