A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678083



Internal ID9944188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:62467842..62468116hg38UCSC Ensembl
chr20:61042898..61043172hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5820521, essv5702595, essv5534160, essv5866090, essv5513786, essv5560300, essv5465361, essv5492239, essv6057395, essv6472588, essv5562921, essv5888807, essv5595569, essv5422198, essv5861195
SamplesNA19399, NA20317, NA19138, NA19384, HG01067, NA18868, NA19372, NA19901, NA19451, HG01124, NA18934, NA19403, NA19114, HG00373, HG00343
Known GenesGATA5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678083
Frequency
Sample Size1151
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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