A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3767035



Internal ID11648150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69212973..69212973hg38UCSC Ensembl
chr9:71827889..71827889hg19UCSC Ensembl
chr9:71017709..71017709hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1115137
Supporting Variants
SamplesHuRef
Known GenesTJP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3767035
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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