A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341183



Internal ID15188170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:143802651..143802683hg38UCSC Ensembl
InnerchrX:143802662..143802669hg38UCSC Ensembl
OuterchrX:143802630..143802701hg38UCSC Ensembl
chrX:142885746..142885778hg19UCSC Ensembl
InnerchrX:142885757..142885764hg19UCSC Ensembl
OuterchrX:142885725..142885796hg19UCSC Ensembl
chrX:142713412..142713444hg18UCSC Ensembl
InnerchrX:142713430..142713423hg18UCSC Ensembl
OuterchrX:142713391..142713462hg18UCSC Ensembl
CytobandXq27.3
Allele length
AssemblyAllele length
hg38214
hg19214
hg18214
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8979253, essv8979251, essv8979252
SamplesNA18561, NA18545, NA18552
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341183
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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