A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634475



Internal ID7021278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50257216..50265757hg38UCSC Ensembl
Innerchr14:50257241..50265733hg38UCSC Ensembl
Outerchr14:50257192..50265782hg38UCSC Ensembl
chr14:50723934..50732475hg19UCSC Ensembl
Innerchr14:50723959..50732451hg19UCSC Ensembl
Outerchr14:50723910..50732500hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg388542
hg198542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15005301
SamplesHG03234
Known GenesL2HGDH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634475
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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