A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657989



Internal ID9577408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59577458..59582106hg38UCSC Ensembl
Innerchr1:60043130..60047778hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg384649
hg194649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5500992
SamplesNA19238
Known GenesFGGY
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657989
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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