A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14941741



Internal ID4332579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23968715..24005678hg38UCSC Ensembl
Innerchr14:23969215..24005178hg38UCSC Ensembl
Outerchr14:23967715..24006678hg38UCSC Ensembl
chr14:24437924..24474887hg19UCSC Ensembl
Innerchr14:24438424..24474387hg19UCSC Ensembl
Outerchr14:24436924..24475887hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3836964
hg1936964
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633792
Supporting Variants
SamplesHG03873
Known GenesDHRS4, DHRS4L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14941741
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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