A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1568973



Internal ID12385409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:107204752..107204752hg38UCSC Ensembl
chrX:106447982..106447982hg19UCSC Ensembl
chrX:106334638..106334638hg18UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3630911
SamplesHuRef
Known GenesNUP62CL
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1568973
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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