A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563471



Internal ID6688826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:73941104..73966080hg38UCSC Ensembl
OuterchrX:73160939..73185915hg19UCSC Ensembl
OuterchrX:73077664..73102640hg18UCSC Ensembl
CytobandXq13.2
Allele length
AssemblyAllele length
hg3811795
hg1911795
hg1811795
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005511
Supporting Variants
SamplesHuRef
Known GenesJPX
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563471
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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