A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8978346



Internal ID14344517
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 StatusS
Merged Variantsesv3417645
Supporting Variants
SamplesNA18853
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8978346
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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