A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5483835



Internal ID8842434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:126864667..126984700hg38UCSC Ensembl
OuterchrX:126864633..126984735hg38UCSC Ensembl
InnerchrX:125998650..126118683hg19UCSC Ensembl
OuterchrX:125998616..126118718hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38120103
hg19120103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668993
Supporting Variants
SamplesHG00278
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5483835
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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