A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4143028



Internal ID11078880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246576253..246576253hg38UCSC Ensembl
chr1:246739555..246739555hg19UCSC Ensembl
chr1:244806178..244806178hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38418
hg19418
hg18418
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1262343
Supporting Variants
SamplesHuRef
Known GenesCNST
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4143028
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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