A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3981781



Internal ID11433406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:77294348..77294348hg38UCSC Ensembl
chr3:77343499..77343499hg19UCSC Ensembl
chr3:77426189..77426189hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1519897
Supporting Variants
SamplesHuRef
Known GenesROBO2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3981781
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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