A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004150



Internal ID7069251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160072636..160078677hg38UCSC Ensembl
Outerchr6:160493668..160499709hg19UCSC Ensembl
Outerchr6:160413658..160419699hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg386042
hg196042
hg186042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564011
SamplesHuRef
Known GenesIGF2R
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004150
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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