A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4042815



Internal ID11719059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69850419..69850419hg38UCSC Ensembl
chr10:71610175..71610175hg19UCSC Ensembl
chr10:71280181..71280181hg18UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38311
hg19311
hg18311
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1107415
Supporting Variants
SamplesHuRef
Known GenesCOL13A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4042815
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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