A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634560



Internal ID7021363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54539309..54554066hg38UCSC Ensembl
Innerchr14:54539350..54554026hg38UCSC Ensembl
Outerchr14:54539269..54554107hg38UCSC Ensembl
chr14:55006027..55020784hg19UCSC Ensembl
Innerchr14:55006068..55020744hg19UCSC Ensembl
Outerchr14:55005987..55020825hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3814758
hg1914758
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15019104
SamplesHG02385
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634560
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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