A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4074019



Internal ID11341169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60982146..60982146hg38UCSC Ensembl
chr11:60749618..60749618hg19UCSC Ensembl
chr11:60506194..60506194hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1472305
Supporting Variants
SamplesHuRef
Known GenesCD6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4074019
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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