A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672797



Internal ID9592216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:20216439..20216800hg38UCSC Ensembl
OuterchrX:20216405..20216835hg38UCSC Ensembl
InnerchrX:20234557..20234918hg19UCSC Ensembl
OuterchrX:20234523..20234953hg19UCSC Ensembl
CytobandXp22.12
Allele length
AssemblyAllele length
hg38431
hg19431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5876775
SamplesNA18487
Known GenesRPS6KA3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672797
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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