A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658049



Internal ID9577468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:36533220..36534268hg38UCSC Ensembl
chr20:35161623..35162671hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5466283, essv6420962, essv5651266, essv5418556, essv6075556
SamplesNA18498, NA19462, NA19236, NA18505, NA19312
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658049
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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