A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4093498



Internal ID11668377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1754442..1754442hg38UCSC Ensembl
chr11:1775672..1775672hg19UCSC Ensembl
chr11:1732248..1732248hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3863
hg1963
hg1863
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1293972
Supporting Variants
SamplesHuRef
Known GenesCTSD, MOB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4093498
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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