A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564812



Internal ID6689508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:103958468..104083991hg38UCSC Ensembl
OuterchrX:103213041..103328676hg19UCSC Ensembl
OuterchrX:103099697..103215332hg18UCSC Ensembl
CytobandXq22.2
Allele length
AssemblyAllele length
hg38125524
hg19115636
hg18115636
Variant TypeOTHER inversion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007027
Supporting Variants
SamplesHuRef
Known GenesH2BFM, H2BFWT, H2BFXP, MIR1256, TMSB15B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564812
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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