A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634647



Internal ID7021450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59397499..59401662hg38UCSC Ensembl
Innerchr14:59397543..59401618hg38UCSC Ensembl
Outerchr14:59397455..59401706hg38UCSC Ensembl
chr14:59864217..59868380hg19UCSC Ensembl
Innerchr14:59864261..59868336hg19UCSC Ensembl
Outerchr14:59864173..59868424hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg384164
hg194164
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15025903, essv15025901, essv15025907, essv15025904, essv15025902, essv15025905, essv15025906
SamplesHG04210, NA18545, HG03705, HG02493, HG02165, NA18541, HG00421
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634647
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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