A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3968713



Internal ID11446473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133414738..133414738hg38UCSC Ensembl
chr3:133133582..133133582hg19UCSC Ensembl
chr3:134616272..134616272hg18UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1102121
Supporting Variants
SamplesHuRef
Known GenesBFSP2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3968713
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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