A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3819215



Internal ID11595970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67233532..67233532hg38UCSC Ensembl
chr11:67001003..67001003hg19UCSC Ensembl
chr11:66757579..66757579hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg381737
hg191737
hg181737
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1081118
Supporting Variants
SamplesHuRef
Known GenesKDM2A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3819215
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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