A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4227239



Internal ID11163091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3691432..3691487hg38UCSC Ensembl
chrX:3609473..3609528hg19UCSC Ensembl
chrX:3619473..3619528hg18UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1734793
Supporting Variants
SamplesHuRef
Known GenesPRKX
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4227239
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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