A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15025849



Internal ID3621306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59153259..59161936hg38UCSC Ensembl
Innerchr14:59153280..59161915hg38UCSC Ensembl
Outerchr14:59153238..59161957hg38UCSC Ensembl
chr14:59619977..59628654hg19UCSC Ensembl
Innerchr14:59619998..59628633hg19UCSC Ensembl
Outerchr14:59619956..59628675hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg388678
hg198678
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634640
Supporting Variants
SamplesHG03212
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15025849
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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