A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663976



Internal ID9583395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:44366466..44369094hg38UCSC Ensembl
chr20:42995106..42997734hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382629
hg192629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6309557
SamplesNA12829
Known GenesHNF4A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663976
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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