A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996162



Internal ID7080472
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564436
SamplesHuRef
Known GenesAKAP14
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996162
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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