A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8978965



Internal ID13764091
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 StatusS
Merged Variantsesv3340628
Supporting Variants
SamplesNA18499
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8978965
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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