A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3683435



Internal ID11731748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189094708..189094708hg38UCSC Ensembl
chr2:189959434..189959434hg19UCSC Ensembl
chr2:189667679..189667679hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38310
hg19310
hg18310
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1526387
Supporting Variants
SamplesHuRef
Known GenesCOL5A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3683435
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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