A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8978088



Internal ID13538592
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 StatusS
Merged Variantsesv3423433
Supporting Variants
SamplesNA12751
Known GenesDMD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8978088
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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