A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15046258



Internal ID6523528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67710682..67718350hg38UCSC Ensembl
Innerchr14:67710682..67718350hg38UCSC Ensembl
Outerchr14:67710182..67718850hg38UCSC Ensembl
chr14:68177399..68185067hg19UCSC Ensembl
Innerchr14:68177399..68185067hg19UCSC Ensembl
Outerchr14:68176899..68185567hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg387669
hg197669
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634807
Supporting Variants
SamplesNA20542
Known GenesRDH12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15046258
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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