A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15040767



Internal ID2352742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64373533..64380466hg38UCSC Ensembl
Innerchr14:64373545..64380455hg38UCSC Ensembl
Outerchr14:64373522..64380478hg38UCSC Ensembl
chr14:64840251..64847184hg19UCSC Ensembl
Innerchr14:64840263..64847173hg19UCSC Ensembl
Outerchr14:64840240..64847196hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg386934
hg196934
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634751
Supporting Variants
SamplesHG02086
Known GenesMIR548AZ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15040767
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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