A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417645



Internal ID15264603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:64220882..64220924hg38UCSC Ensembl
InnerchrX:64220887..64220917hg38UCSC Ensembl
OuterchrX:64220845..64220961hg38UCSC Ensembl
chrX:63440762..63440804hg19UCSC Ensembl
InnerchrX:63440767..63440797hg19UCSC Ensembl
OuterchrX:63440725..63440841hg19UCSC Ensembl
chrX:63357487..63357529hg18UCSC Ensembl
InnerchrX:63357522..63357492hg18UCSC Ensembl
OuterchrX:63357450..63357566hg18UCSC Ensembl
CytobandXq11.1
Allele length
AssemblyAllele length
hg38212
hg19212
hg18212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8978345, essv8978347, essv8978346
SamplesNA18510, NA18853, NA18511
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417645
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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