A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667443



Internal ID9586862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:106695100..106706622hg38UCSC Ensembl
OuterchrX:106694943..106706775hg38UCSC Ensembl
InnerchrX:105938330..105949852hg19UCSC Ensembl
OuterchrX:105938173..105950005hg19UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3811833
hg1911833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5853032
SamplesNA19428
Known GenesRNF128
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667443
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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