A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4043801



Internal ID11718073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:64371683..64371683hg38UCSC Ensembl
chr17:59798505..59798505hg18UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg384281
hg184281
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1046865
Supporting Variants
SamplesHuRef
Known GenesPECAM1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4043801
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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