A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1450052



Internal ID5580156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:22224985..22224985hg38UCSC Ensembl
chrX:22243102..22243102hg19UCSC Ensembl
chrX:22153023..22153023hg18UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38150
hg19150
hg18150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3880560
SamplesHuRef
Known GenesPHEX
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1450052
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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