A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1335099



Internal ID12498221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148007309..148007309hg38UCSC Ensembl
chr7:147704401..147704401hg19UCSC Ensembl
chr7:147335334..147335334hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38319
hg19319
hg18319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3674003
SamplesHuRef
Known GenesCNTNAP2, MIR548F3, MIR548T
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1335099
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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