A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5420387



Internal ID8397790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3688293..3688600hg38UCSC Ensembl
chrX:3606334..3606641hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2674456
Supporting Variants
SamplesNA18557
Known GenesPRKX
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5420387
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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