A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303252



Internal ID15150200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31352213..31352214hg38UCSC Ensembl
InnerchrX:31352178..31352249hg38UCSC Ensembl
OuterchrX:31352177..31352250hg38UCSC Ensembl
chrX:31370330..31370331hg19UCSC Ensembl
InnerchrX:31370295..31370366hg19UCSC Ensembl
OuterchrX:31370294..31370367hg19UCSC Ensembl
chrX:31280251..31280252hg18UCSC Ensembl
InnerchrX:31280287..31280216hg18UCSC Ensembl
OuterchrX:31280215..31280288hg18UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7743545, essv7762832, essv7756874
SamplesNA12751, NA10847, NA12489
Known GenesDMD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303252
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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