A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3847444



Internal ID11567741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:70350101..70350101hg38UCSC Ensembl
chrX:69569951..69569951hg19UCSC Ensembl
chrX:69486676..69486676hg18UCSC Ensembl
CytobandXq13.1
Allele length
AssemblyAllele length
hg38116
hg19116
hg18116
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1361658
Supporting Variants
SamplesHuRef
Known GenesKIF4A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3847444
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer