A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634139



Internal ID7020943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39144615..39146839hg38UCSC Ensembl
Innerchr14:39144649..39146805hg38UCSC Ensembl
Outerchr14:39144581..39146873hg38UCSC Ensembl
chr14:39613819..39616043hg19UCSC Ensembl
Innerchr14:39613853..39616009hg19UCSC Ensembl
Outerchr14:39613785..39616077hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg382225
hg192225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14974727, essv14974728
SamplesNA19443, HG02281
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634139
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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