A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634478



Internal ID7021281
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15005310, essv15005313, essv15005311, essv15005309, essv15005308, essv15005312
SamplesHG03559, HG03081, HG01896, HG02613, NA19454, NA19037
Known GenesCDKL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634478
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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