A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001104



Internal ID7066233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:89484726..89484726hg38UCSC Ensembl
chrX:88739725..88739725hg19UCSC Ensembl
chrX:88626381..88626381hg18UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3583340
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001104
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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