A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3340628



Internal ID15187615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:126426547..126426605hg38UCSC Ensembl
InnerchrX:126426565..126426584hg38UCSC Ensembl
OuterchrX:126426529..126426623hg38UCSC Ensembl
chrX:125560530..125560588hg19UCSC Ensembl
InnerchrX:125560548..125560567hg19UCSC Ensembl
OuterchrX:125560512..125560606hg19UCSC Ensembl
chrX:125388211..125388269hg18UCSC Ensembl
InnerchrX:125388229..125388248hg18UCSC Ensembl
OuterchrX:125388193..125388287hg18UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg38277
hg19277
hg18277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8978965, essv8978962, essv8978964, essv8978963
SamplesNA18870, NA19172, NA18499, NA18858
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3340628
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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