A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303334



Internal ID15150282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3146180..3146181hg38UCSC Ensembl
InnerchrX:3146158..3146203hg38UCSC Ensembl
OuterchrX:3146157..3146204hg38UCSC Ensembl
chrX:3064221..3064222hg19UCSC Ensembl
InnerchrX:3064199..3064244hg19UCSC Ensembl
OuterchrX:3064198..3064245hg19UCSC Ensembl
chrX:3074221..3074222hg18UCSC Ensembl
InnerchrX:3074244..3074199hg18UCSC Ensembl
OuterchrX:3074198..3074245hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38296
hg19296
hg18296
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7763752, essv7765806, essv7764758, essv7769103
SamplesNA12045, NA12815, NA12234, NA19143
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303334
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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