A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662642



Internal ID9928747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23795768..23802730hg38UCSC Ensembl
Outerchr14:23795611..23802883hg38UCSC Ensembl
Innerchr14:24264977..24271939hg19UCSC Ensembl
Outerchr14:24264820..24272092hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg387273
hg197273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5424420, essv5607141, essv6152825
SamplesNA18942, NA19088, NA19009
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662642
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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