A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1358058



Internal ID12174494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:110689699..110689699hg38UCSC Ensembl
chrX:109932927..109932927hg19UCSC Ensembl
chrX:109819583..109819583hg18UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg38148
hg19148
hg18148
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4051706
SamplesHuRef
Known GenesCHRDL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1358058
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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