A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663989



Internal ID9930094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:223827301..223828810hg38UCSC Ensembl
Outerchr1:223827144..223828963hg38UCSC Ensembl
Innerchr1:224015003..224016512hg19UCSC Ensembl
Outerchr1:224014846..224016665hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381820
hg191820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6581316
SamplesNA18597
Known GenesTP53BP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663989
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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