A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15102294



Internal ID3336912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:93907738..93909228hg38UCSC Ensembl
Innerchr14:93907769..93909197hg38UCSC Ensembl
Outerchr14:93907707..93909259hg38UCSC Ensembl
chr14:94374084..94375574hg19UCSC Ensembl
Innerchr14:94374115..94375543hg19UCSC Ensembl
Outerchr14:94374053..94375605hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381491
hg191491
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635372
Supporting Variants
SamplesHG02977
Known GenesFAM181A-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15102294
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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