A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666835



Internal ID9586254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:110695373..110698911hg38UCSC Ensembl
chrX:109938601..109942139hg19UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg383539
hg193539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6406104, essv5580717, essv6537171, essv6499714, essv5460543, essv5893292, essv5654005, essv5946823, essv6065349, essv5855312, essv5479098
SamplesNA19701, NA19457, NA19235, NA18907, NA19225, NA18523, NA19469, NA19147, NA19470, NA18501, NA19676
Known GenesCHRDL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666835
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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