A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5412307



Internal ID9489803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:73974298..73976814hg38UCSC Ensembl
chrX:73194133..73196649hg19UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg382517
hg192517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2673779
Supporting Variants
SamplesNA18964
Known GenesJPX
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5412307
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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