A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5729090



Internal ID8706493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:49966577..49968962hg38UCSC Ensembl
chrX:49731187..49733575hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg382386
hg192389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2673611
Supporting Variants
SamplesNA19209
Known GenesCLCN5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5729090
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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