A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1669432



Internal ID12485864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146712283..146712283hg38UCSC Ensembl
chr7:146409375..146409375hg19UCSC Ensembl
chr7:146040308..146040308hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3995351
SamplesHuRef
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1669432
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer