A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3800719



Internal ID11614466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:120112390..120112390hg38UCSC Ensembl
chrX:119246348..119246348hg19UCSC Ensembl
chrX:119130376..119130376hg18UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg38121
hg19121
hg18121
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1505897
Supporting Variants
SamplesHuRef
Known GenesRHOXF1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3800719
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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