A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4266782



Internal ID11202634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178758772..178758873hg38UCSC Ensembl
chr3:178476560..178476661hg19UCSC Ensembl
chr3:179959254..179959355hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38102
hg19102
hg18102
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1312525
Supporting Variants
SamplesHuRef
Known GenesKCNMB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4266782
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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