A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3432313



Internal ID15279269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:68653357..68653378hg38UCSC Ensembl
InnerchrX:68653356..68653379hg38UCSC Ensembl
OuterchrX:68653307..68653428hg38UCSC Ensembl
chrX:67873199..67873220hg19UCSC Ensembl
InnerchrX:67873198..67873221hg19UCSC Ensembl
OuterchrX:67873149..67873270hg19UCSC Ensembl
chrX:67789924..67789945hg18UCSC Ensembl
InnerchrX:67789946..67789923hg18UCSC Ensembl
OuterchrX:67789874..67789995hg18UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38226
hg19226
hg18226
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741377
SamplesNA12878
Known GenesSTARD8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3432313
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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