A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15005310



Internal ID3458222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50364552..50369159hg38UCSC Ensembl
Innerchr14:50364602..50369109hg38UCSC Ensembl
Outerchr14:50364385..50369326hg38UCSC Ensembl
chr14:50831270..50835877hg19UCSC Ensembl
Innerchr14:50831320..50835827hg19UCSC Ensembl
Outerchr14:50831103..50836044hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg384608
hg194608
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634478
Supporting Variants
SamplesHG03081
Known GenesCDKL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15005310
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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