A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3759659



Internal ID12002211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36507567..36507567hg38UCSC Ensembl
chr11:36529117..36529117hg19UCSC Ensembl
chr11:36485693..36485693hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38392
hg19392
hg18392
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1648317
Supporting Variants
SamplesHuRef
Known GenesTRAF6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3759659
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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