A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670812



Internal ID9936917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:32305232..32306946hg38UCSC Ensembl
chr20:30893035..30894749hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg381715
hg191715
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6355299, essv6278688
SamplesHG00629, HG00478
Known GenesKIF3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670812
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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