A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15011011



Internal ID3959819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52141915..52145231hg38UCSC Ensembl
Innerchr14:52141960..52145187hg38UCSC Ensembl
Outerchr14:52141871..52145276hg38UCSC Ensembl
chr14:52608633..52611949hg19UCSC Ensembl
Innerchr14:52608678..52611905hg19UCSC Ensembl
Outerchr14:52608589..52611994hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg383317
hg193317
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634516
Supporting Variants
SamplesHG03611
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15011011
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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