A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633719



Internal ID7020526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21551136..21555492hg38UCSC Ensembl
Innerchr14:21551136..21555492hg38UCSC Ensembl
Outerchr14:21550944..21555603hg38UCSC Ensembl
chr14:22019284..22023623hg19UCSC Ensembl
Innerchr14:22019284..22023623hg19UCSC Ensembl
Outerchr14:22019092..22023734hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg384357
hg194340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14930135, essv14930136, essv14930137, essv14930134
SamplesHG00367, HG02420, NA10847, HG00149
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633719
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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