A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661672



Internal ID9927777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:135398286..135401512hg38UCSC Ensembl
OuterchrX:135398129..135401665hg38UCSC Ensembl
InnerchrX:134532211..134535437hg19UCSC Ensembl
OuterchrX:134532054..134535590hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg383537
hg193537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5412264, essv5876055
SamplesNA18582, HG00578
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661672
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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