A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15023189



Internal ID3953516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56712086..56732239hg38UCSC Ensembl
Innerchr14:56712086..56732239hg38UCSC Ensembl
Outerchr14:56711749..56732580hg38UCSC Ensembl
chr14:57178804..57198957hg19UCSC Ensembl
Innerchr14:57178804..57198957hg19UCSC Ensembl
Outerchr14:57178467..57199298hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3820154
hg1920154
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634595
Supporting Variants
SamplesHG03604
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15023189
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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