A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4263749



Internal ID11546287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1405084..1405084hg38UCSC Ensembl
chr11:1426314..1426314hg19UCSC Ensembl
chr11:1382890..1382890hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1644887
Supporting Variants
SamplesHuRef
Known GenesBRSK2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4263749
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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