A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1105229



Internal ID11921669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178759699..178759757hg38UCSC Ensembl
chr3:178477487..178477545hg19UCSC Ensembl
chr3:179960181..179960239hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3955495
SamplesHuRef
Known GenesKCNMB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1105229
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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