A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3686943



Internal ID11728240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:73405210..73405210hg38UCSC Ensembl
chr17:71401349..71401349hg19UCSC Ensembl
chr17:68912944..68912944hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg381205
hg191205
hg181205
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1445939
Supporting Variants
SamplesHuRef
Known GenesSDK2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3686943
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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