A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4360551



Internal ID11296403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180859068..180859068hg38UCSC Ensembl
chr1:180828204..180828204hg19UCSC Ensembl
chr1:179094827..179094827hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1112679
Supporting Variants
SamplesHuRef
Known GenesXPR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4360551
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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