A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678767



Internal ID9944872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102156035..102164204hg38UCSC Ensembl
chr14:102622372..102630541hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg388170
hg198170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5925172, essv5723881
SamplesNA19700, NA19397
Known GenesWDR20
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678767
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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