A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3374445



Internal ID15221420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:130439812..130439812hg38UCSC Ensembl
InnerchrX:130439811..130439813hg38UCSC Ensembl
OuterchrX:130439762..130439862hg38UCSC Ensembl
chrX:129573786..129573786hg19UCSC Ensembl
InnerchrX:129573785..129573787hg19UCSC Ensembl
OuterchrX:129573736..129573836hg19UCSC Ensembl
chrX:129401467..129401467hg18UCSC Ensembl
InnerchrX:129401468..129401466hg18UCSC Ensembl
OuterchrX:129401417..129401517hg18UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38208
hg19208
hg18208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741381
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3374445
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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