A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15093234



Internal ID5095052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89814485..89817780hg38UCSC Ensembl
Innerchr14:89814543..89817723hg38UCSC Ensembl
Outerchr14:89814428..89817838hg38UCSC Ensembl
chr14:90280829..90284124hg19UCSC Ensembl
Innerchr14:90280887..90284067hg19UCSC Ensembl
Outerchr14:90280772..90284182hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg383296
hg193296
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635302
Supporting Variants
SamplesHG00139
Known GenesEFCAB11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15093234
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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