A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310548



Internal ID15157499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:68652906..68652948hg38UCSC Ensembl
OuterchrX:68652906..68652948hg38UCSC Ensembl
InnerchrX:67872748..67872790hg19UCSC Ensembl
OuterchrX:67872748..67872790hg19UCSC Ensembl
InnerchrX:67789515..67789473hg18UCSC Ensembl
OuterchrX:67789473..67789515hg18UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38426
hg19426
hg18426
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7843561
SamplesNA12878
Known GenesSTARD8
MethodSequencing
AnalysisNovelSeq
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310548
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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