A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4346305



Internal ID11628843
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1726659
Supporting Variants
SamplesHuRef
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4346305
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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