A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7756874



Internal ID13543747
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 StatusS
Merged Variantsesv3303252
Supporting Variants
SamplesNA12751
Known GenesDMD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7756874
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer