A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1726659



Internal ID12543092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147084378..147084378hg38UCSC Ensembl
chr7:146781470..146781470hg19UCSC Ensembl
chr7:146412403..146412403hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4346305
SamplesHuRef
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1726659
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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