A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633959



Internal ID7020763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30750642..30756401hg38UCSC Ensembl
Innerchr14:30750642..30756401hg38UCSC Ensembl
Outerchr14:30750366..30756680hg38UCSC Ensembl
chr14:31219848..31225607hg19UCSC Ensembl
Innerchr14:31219848..31225607hg19UCSC Ensembl
Outerchr14:31219572..31225886hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg385760
hg195760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14953288
SamplesHG00513
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633959
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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