A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661184



Internal ID9927289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:83903966..83904876hg38UCSC Ensembl
Outerchr14:83903800..83905029hg38UCSC Ensembl
Innerchr14:84370310..84371220hg19UCSC Ensembl
Outerchr14:84370144..84371373hg19UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg381230
hg191230
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6516274, essv5542336, essv6064382, essv5872446, essv5671389
SamplesHG01048, NA18933, NA19395, NA18873, NA20826
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661184
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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