A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15010624



Internal ID4694400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52075346..52119468hg38UCSC Ensembl
Innerchr14:52075347..52119468hg38UCSC Ensembl
Outerchr14:52075346..52119469hg38UCSC Ensembl
chr14:52542064..52586186hg19UCSC Ensembl
Innerchr14:52542065..52586186hg19UCSC Ensembl
Outerchr14:52542064..52586187hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3844123
hg1944123
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634514
Supporting Variants
SamplesHG04214
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15010624
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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