A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15003288



Internal ID5468489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:47316082..47330247hg38UCSC Ensembl
Innerchr14:47316082..47330247hg38UCSC Ensembl
Outerchr14:47315582..47330747hg38UCSC Ensembl
chr14:47785285..47799450hg19UCSC Ensembl
Innerchr14:47785285..47799450hg19UCSC Ensembl
Outerchr14:47784785..47799950hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3814166
hg1914166
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634410
Supporting Variants
SamplesNA18972
Known GenesMDGA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15003288
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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