A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564586



Internal ID7035686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218433488..218441829hg38UCSC Ensembl
Outerchr2:219298211..219306552hg19UCSC Ensembl
Outerchr2:219006455..219014796hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg388342
hg198342
hg188342
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009419
Supporting Variants
SamplesHuRef
Known GenesVIL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564586
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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