A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3750654



Internal ID12011216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:115403085..115403085hg38UCSC Ensembl
chrX:114637659..114637659hg19UCSC Ensembl
chrX:114543915..114543915hg18UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg38144
hg19144
hg18144
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1720208
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3750654
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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