A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3423433



Internal ID15270390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31352203..31352229hg38UCSC Ensembl
InnerchrX:31352215..31352215hg38UCSC Ensembl
OuterchrX:31352189..31352241hg38UCSC Ensembl
chrX:31370320..31370346hg19UCSC Ensembl
InnerchrX:31370332..31370332hg19UCSC Ensembl
OuterchrX:31370306..31370358hg19UCSC Ensembl
chrX:31280241..31280267hg18UCSC Ensembl
InnerchrX:31280253..31280253hg18UCSC Ensembl
OuterchrX:31280227..31280279hg18UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8978088, essv8978087, essv8978089
SamplesNA12751, NA10847, NA12489
Known GenesDMD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3423433
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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