A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678287



Internal ID9944392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152941780..153032830hg38UCSC Ensembl
chrX:152110324..152201176hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3891051
hg1990853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5882386, essv5404049, essv5679744, essv5975194, essv5817566, essv6499490
SamplesNA19005, NA20513, NA18948, NA18536, NA18943, NA19780
Known GenesPNMA5, ZNF185
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678287
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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