A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4174561



Internal ID11110413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128548136..128548136hg38UCSC Ensembl
chr11:128418031..128418031hg19UCSC Ensembl
chr11:127923241..127923241hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1757388
Supporting Variants
SamplesHuRef
Known GenesETS1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4174561
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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