A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564436



Internal ID7035536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:119898557..119902538hg38UCSC Ensembl
OuterchrX:119032520..119036501hg19UCSC Ensembl
OuterchrX:118916548..118920529hg18UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3821529
hg1921529
hg1821529
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996162
Supporting Variants
SamplesHuRef
Known GenesAKAP14
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564436
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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