A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335197



Internal ID15182187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:81174027..81174046hg38UCSC Ensembl
InnerchrX:81174023..81174050hg38UCSC Ensembl
OuterchrX:81174004..81174069hg38UCSC Ensembl
chrX:80429526..80429545hg19UCSC Ensembl
InnerchrX:80429522..80429549hg19UCSC Ensembl
OuterchrX:80429503..80429568hg19UCSC Ensembl
chrX:80316182..80316201hg18UCSC Ensembl
InnerchrX:80316205..80316178hg18UCSC Ensembl
OuterchrX:80316159..80316224hg18UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9681591
SamplesNA12873
Known GenesHMGN5
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335197
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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