A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6178588



Internal ID9060386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220263031..220267543hg38UCSC Ensembl
chr1:220436373..220440885hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg384513
hg194513
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673210
Supporting Variants
SamplesHG00707
Known GenesAURKAPS1, RAB3GAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6178588
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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