A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15040493



Internal ID2562571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64043893..64046388hg38UCSC Ensembl
Innerchr14:64043925..64046357hg38UCSC Ensembl
Outerchr14:64043862..64046420hg38UCSC Ensembl
chr14:64510611..64513106hg19UCSC Ensembl
Innerchr14:64510643..64513075hg19UCSC Ensembl
Outerchr14:64510580..64513138hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg382496
hg192496
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634743
Supporting Variants
SamplesHG02275
Known GenesMIR548AZ, SYNE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15040493
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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