A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14974727



Internal ID2571448
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634139
Supporting Variants
SamplesHG02281
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14974727
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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